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[PMID]:28898887
[Au] Autor:Ververi A; Islam L; Bewes B; Busby L; Sullivan C; Canham N
[Ad] Endereço:North West Thames Regional Genetics Service, London, UK.
[Ti] Título:Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
[So] Source:Cytogenet Genome Res;152(3):132-136, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing). We describe a boy with AS due to an 11.7-kb intragenic deletion. The deletion was identified by array-CGH and was subsequently detected in his affected first cousin and unaffected maternal grandfather, mother, and aunt, confirming the silencing of the paternal allele. The patient had developmental delay, speech impairment, a happy demeanour, microcephaly, and an abnormal EEG, but no seizures by the age of 4 years. Delineation of the underlying genetic mechanism is of utmost importance for reasons of genetic counselling, as well as appropriate management and prognosis. Alternative techniques, such as array-CGH and MLPA, are necessary when conventional testing for AS has failed to identify the underlying genetic mechanism.
[Mh] Termos MeSH primário: Síndrome de Angelman/genética
Éxons/genética
Herança Materna/genética
Deleção de Sequência
Ubiquitina-Proteína Ligases/genética
[Mh] Termos MeSH secundário: Alelos
Síndrome de Angelman/fisiopatologia
Braquidactilia/diagnóstico
Braquidactilia/genética
Braquidactilia/fisiopatologia
Pré-Escolar
Aberrações Cromossômicas
Cromossomos Humanos Par 15/genética
Dedos/anormalidades
Seres Humanos
Hipertelorismo/diagnóstico
Hipertelorismo/genética
Hipertelorismo/fisiopatologia
Deficiência Intelectual/genética
Masculino
Fenótipo
Estrabismo/diagnóstico
Estrabismo/genética
Estrabismo/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.2.26 (UBE3A protein, human); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170913
[St] Status:MEDLINE
[do] DOI:10.1159/000480030


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[PMID]:28385908
[Au] Autor:Page MM; Hooper AJ; Glendenning P; Burnett JR
[Ad] Endereço:Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia.
[Ti] Título:Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.
[So] Source:BMJ Case Rep;2017, 2017 Apr 06.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3-5 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance. Abnormally short digits involving the metacarpals, classified as brachydactyly type E, can be isolated or occur as part of a syndrome. Turner syndrome, Albright hereditary osteodystrophy, hypertension with brachydactyly, chromosome 2q37 microdeletion and mutations were excluded following clinical, biochemical and genetic testing. No specific treatment was required. Genetic testing for isolated and syndromic forms of brachydactyly facilitates family screening and prepregnancy counselling.
[Mh] Termos MeSH primário: Braquidactilia/diagnóstico
Hipertrigliceridemia/etiologia
Pancreatite/etiologia
[Mh] Termos MeSH secundário: Diagnóstico Diferencial
Feminino
Seres Humanos
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170408
[St] Status:MEDLINE


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[PMID]:28329522
[Au] Autor:Caravaglio JV; Gupta R; Weinstein D
[Ti] Título:Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report.
[So] Source:Dermatol Online J;23(3), 2017 Mar 15.
[Is] ISSN:1087-2108
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2].Although rare, primary osteoma cutis has beenassociated with a number of different geneticdisorders. Albright hereditary osteodystrophy (AHO),a condition first described in 1942 by Fuller Albright,is an autosomal dominant metabolic disorder causedby a mutation in the GNAS1 gene [3]. This disease isassociated with a variety of phenotypic traits includingcutaneous ossification, short stature, brachydactyly,obesity, and mental retardation. It should be notedthat brachydactyly is the most specific feature of AHO[4]. However, owing to variable expressivity individualsmay present only with a subset of these symptoms [5,6]. The cutaneous ossification observed in patientswith AHO may be seen in infancy or early childhoodand is sometimes the earliest presenting symptom.Nonetheless, because clinical features of AHO canbe seen in the absence of metabolic derangements(i.e. normal serum calcium, phosphorus, and PTHlevels) an early diagnosis is often missed and delayedfor many years. Herein, we present a case of miliaryosteoma cutis of the face in a 68 year-old woman withphenotypic features of AHO and laboratory studiesconsistent with type 1a PHP.
[Mh] Termos MeSH primário: Doenças Ósseas Metabólicas/diagnóstico
Dermatoses Faciais/diagnóstico
Ossificação Heterotópica/diagnóstico
Pseudo-Hipoparatireoidismo/diagnóstico
Dermatopatias Genéticas/diagnóstico
[Mh] Termos MeSH secundário: Acne Vulgar
Idoso
Doenças Ósseas Metabólicas/complicações
Doenças Ósseas Metabólicas/patologia
Braquidactilia
Dermatoses Faciais/complicações
Dermatoses Faciais/patologia
Feminino
Seres Humanos
Ossificação Heterotópica/complicações
Ossificação Heterotópica/patologia
Pseudo-Hipoparatireoidismo/complicações
Dermatopatias Genéticas/complicações
Dermatopatias Genéticas/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE


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[PMID]:28111183
[Au] Autor:Fontana P; Tortora C; Petillo R; Malacarne M; Cavani S; Miniero M; D'Ambrosio P; De Brasi D; Pisanti MA
[Ad] Endereço:Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy. Electronic address: sibusiso.fontana@gmail.com.
[Ti] Título:Brachydactyly type E in an Italian family with 6p25 trisomy.
[So] Source:Eur J Med Genet;60(3):195-199, 2017 Mar.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.
[Mh] Termos MeSH primário: Braquidactilia/genética
Fatores de Transcrição Forkhead/genética
Trissomia/genética
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos Par 6/genética
Feminino
Seres Humanos
Lactente
Itália
Cariótipo
Ossos Metacarpais/anormalidades
Ossos do Metatarso/anormalidades
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FOXC1 protein, human); 0 (Forkhead Transcription Factors)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170616
[Lr] Data última revisão:
170616
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170124
[St] Status:MEDLINE


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[PMID]:27939641
[Au] Autor:Guo DC; Duan XY; Regalado ES; Mellor-Crummey L; Kwartler CS; Kim D; Lieberman K; de Vries BB; Pfundt R; Schinzel A; Kotzot D; Shen X; Yang ML; Bamshad MJ; Nickerson DA; Gornik HL; Ganesh SK; Braverman AC; Grange DK; Milewicz DM; University of Washington Center for Mendelian Genomics
[Ad] Endereço:Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
[Ti] Título:Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
[So] Source:Am J Hum Genet;100(1):21-30, 2017 Jan 05.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Exome-sequencing analysis of DNA from three affected siblings with Grange syndrome identified compound heterozygous nonsense variants in YY1AP1, and homozygous nonsense or frameshift YY1AP1 variants were subsequently identified in additional unrelated probands with Grange syndrome. YY1AP1 encodes yin yang 1 (YY1)-associated protein 1 and is an activator of the YY1 transcription factor. We determined that YY1AP1 localizes to the nucleus and is a component of the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication. Molecular studies revealed that loss of YY1AP1 in vascular smooth muscle cells leads to cell cycle arrest with decreased proliferation and increased levels of the cell cycle regulator p21/WAF/CDKN1A and disrupts TGF-ß-driven differentiation of smooth muscle cells. Identification of YY1AP1 mutations as a cause of FMD indicates that this condition can result from underlying genetic variants that significantly alter the phenotype of vascular smooth muscle cells.
[Mh] Termos MeSH primário: Displasia Fibromuscular/genética
Músculo Liso Vascular/metabolismo
Músculo Liso Vascular/patologia
Mutação
Proteínas Nucleares/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Osso e Ossos/patologia
Braquidactilia/genética
Pontos de Checagem do Ciclo Celular/genética
Exoma/genética
Feminino
Genes Recessivos
Heterozigoto
Homozigoto
Seres Humanos
Transtornos de Aprendizagem/genética
Masculino
Meia-Idade
Linhagem
Sindactilia/genética
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nuclear Proteins); 0 (Transcription Factors); 0 (YY1AP1 protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


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[PMID]:27718516
[Au] Autor:Kernohan KD; McBride A; Xi Y; Martin N; Schwartzentruber J; Dyment DA; Majewski J; Blaser S; Boycott KM; Chitayat D; Care4Rare Canada Consortium
[Ad] Endereço:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
[Ti] Título:Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
[So] Source:Clin Genet;91(5):708-716, 2017 May.
[Is] ISSN:1399-0004
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Post-translational protein modifications exponentially expand the functional complement of proteins encoded by the human genome. One such modification is the covalent addition of a methyl group to arginine or lysine residues, which is used to regulate a substantial proportion of the proteome. Arginine and lysine methylation are catalyzed by protein arginine methyltransferase (PRMTs) and protein lysine methyltransferase proteins (PKMTs), respectively; each methyltransferase has a specific set of target substrates. Here, we report a male with severe intellectual disability, facial dysmorphism, microcephaly, short stature, brachydactyly, cryptorchidism and seizures who was found to have a homozygous 15,309 bp deletion encompassing the transcription start site of PRMT7, which we confirmed is functionally a null allele. We show that the patient's cells have decreased levels of protein arginine methylation, and that affected proteins include the essential histones, H2B and H4. Finally, we demonstrate that patient cells have altered Wnt signaling, which may have contributed to the skeletal abnormalities. Our findings confirm the recent disease association of PRMT7, expand the phenotypic manifestations of this disorder and provide insight into the molecular pathogenesis of this new condition.
[Mh] Termos MeSH primário: Braquidactilia/genética
Deficiência Intelectual/genética
Microcefalia/genética
Proteína-Arginina N-Metiltransferases/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Arginina/metabolismo
Pré-Escolar
Cromossomos Humanos Par 16
Face/anormalidades
Feminino
Dedos/anormalidades
Deleção de Genes
Seres Humanos
Lactente
Recém-Nascido
Masculino
Sítio de Iniciação de Transcrição
Via de Sinalização Wnt/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
94ZLA3W45F (Arginine); EC 2.1.1.319 (PRMT7 protein, human); EC 2.1.1.319 (Protein-Arginine N-Methyltransferases)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170602
[Lr] Data última revisão:
170602
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161009
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12884


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[PMID]:27115209
[Au] Autor:Zhou L; Wang T; Wang J
[Ad] Endereço:The 3rd Department, Plastic Surgery Hospital of the Chinese Academy of Medical Science, Peking Union Medical College, Beijing, China.
[Ti] Título:Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.
[So] Source:Ophthal Plast Reconstr Surg;33(3S Suppl 1):S82-S84, 2017 May/Jun.
[Is] ISSN:1537-2677
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 7-year-old female presented with blepharophimosis ptosis epicanthus inversus syndrome with congenital hypothyroidism and brachydactyly. She displayed typical manifestations of type II blepharophimosis ptosis epicanthus inversus syndrome (normal uterus position, ovarian volume, and normal serum hormone levels). She takes levothyroxine sodium daily due to her congenital hypothyroidism. Karyotype analysis and genetic analysis of FOXL2 coding sequence was found to be normal. mtDNA A3243G, A8344G, 8993, and 13513 genes were also normal. The absence of mutations excluded mitochondrial encephalomyopathies. To the best of our knowledge, this is the first reported case of blepharophimosis ptosis epicanthus inversus syndrome with congenital hypothyroidism and brachydactyly.
[Mh] Termos MeSH primário: Anormalidades Múltiplas
Blefarofimose/diagnóstico
Braquidactilia/diagnóstico
Hipotireoidismo Congênito/diagnóstico
Testes Genéticos/métodos
Anormalidades da Pele/diagnóstico
Anormalidades Urogenitais/diagnóstico
[Mh] Termos MeSH secundário: Blefarofimose/genética
Braquidactilia/genética
Criança
Hipotireoidismo Congênito/genética
Feminino
Seres Humanos
Anormalidades da Pele/genética
Anormalidades Urogenitais/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160427
[St] Status:MEDLINE
[do] DOI:10.1097/IOP.0000000000000708


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[PMID]:27984629
[Au] Autor:Wang Q; Zhou F; Xie W; Zhao X; Tian R
[Ad] Endereço:Gansu Medical College, Pingliang, Gansu 744000, China. 2531295072@qq.com.
[Ti] Título:[Analysis of a pedigree affected with brachydactyly].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;33(6):889, 2016 Dec 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Mh] Termos MeSH primário: Braquidactilia/genética
[Mh] Termos MeSH secundário: Adulto
Aberrações Cromossômicas
Feminino
Dedos/anormalidades
Seres Humanos
Masculino
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161217
[St] Status:MEDLINE


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[PMID]:27562837
[Au] Autor:Garavelli L; Maini I; Baccilieri F; Ivanovski I; Pollazzon M; Rosato S; Iughetti L; Unger S; Superti-Furga A; Tartaglia M
[Ad] Endereço:Clinical Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. garavelli.livia@asmn.re.it.
[Ti] Título:Natural history and life-threatening complications in Myhre syndrome and review of the literature.
[So] Source:Eur J Pediatr;175(10):1307-15, 2016 Oct.
[Is] ISSN:1432-1076
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:UNLABELLED: Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an autosomal dominant trait and caused by a narrow spectrum of missense mutations in the SMAD4 gene. The condition features characteristic face, short stature, skeletal anomalies, muscle pseudohypertrophy, restricted joint mobility, stiff and thick skin, and variable intellectual disability. While most of the clinical features manifest during childhood, the diagnosis may be challenging during the first years of life. We report on the evolution of the clinical features of Myhre syndrome during childhood in a subject with molecularly confirmed diagnosis. The clinical records of 48 affected patients were retrospectively analysed to identify any early clinical signs characterizing this disorder and to better delineate its natural history. We also note that pericarditis and laryngotracheal involvement represent important life-threatening complications of Myhre syndrome that justify the recommendation for cardiological and ENT follow-up for these patients. CONCLUSION: Short length/stature, short palpebral fissures, and brachydactyly with hyperconvex nails represent signs/features that might lead to the correct diagnosis in the first years of life and direct to the proper molecular analysis. We underline the clinical relevance of pericarditis and laryngotracheal stenosis as life-threatening complications of this disorder and the need for careful monitoring, in relation to their severity. WHAT IS KNOWN: • The clinical and radiological signs of the disease in children older than 7-8 years. • Pericarditis, sometimes occurring with constrictive pericardium requiring pericardiectomy, has been reported as a recurrent feature but has not been adequately stressed in previous literature. What is New: • Short length/stature, short palpebral fissures, brachydactyly with hyperconvex nails represent clinical signs that might lead to diagnosis in the first years of life. • Review of the literature showed that pericarditis and laryngotracheal complications represent major recurrent issues in patients with Myhre syndrome.
[Mh] Termos MeSH primário: Criptorquidismo/diagnóstico
Transtornos do Crescimento/diagnóstico
Deformidades Congênitas da Mão/diagnóstico
Deficiência Intelectual/diagnóstico
Mutação de Sentido Incorreto/genética
Proteína Smad4/genética
[Mh] Termos MeSH secundário: Braquidactilia
Criança
Criptorquidismo/complicações
Criptorquidismo/genética
Facies
Dedos/anormalidades
Dedos/diagnóstico por imagem
Transtornos do Crescimento/complicações
Transtornos do Crescimento/genética
Deformidades Congênitas da Mão/complicações
Deformidades Congênitas da Mão/genética
Seres Humanos
Deficiência Intelectual/complicações
Deficiência Intelectual/genética
Masculino
Unhas Malformadas/fisiopatologia
Pericardite/etiologia
Fenótipo
Radiografia
Estudos Retrospectivos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (SMAD4 protein, human); 0 (Smad4 Protein)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160827
[St] Status:MEDLINE
[do] DOI:10.1007/s00431-016-2761-3


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[PMID]:27467896
[Au] Autor:Kayemba-Kay's S; Tripon C; Heron A; Hindmarsh P
[Ad] Endereço:Victor Jousselin Hospital, Clinic of Pediatrics and Neonatal Medicine, Pediatric Endocrinology Unit, Dreux, France, Phone: +33 2 37 51 53 13 E-mail: kayembakays@yahoo.com.au.
[Ti] Título:Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.
[So] Source:J Clin Res Pediatr Endocrinol;8(4):432-438, 2016 12 01.
[Is] ISSN:1308-5735
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate the clinical signs and symptoms that would help clinicians to consider pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child. METHODS: A retrospective review of the medical records of children diagnosed by erythrocyte Gsα activity and/or GNAS1 gene study and followed-up for PHP type 1A. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed. Weight gain during infancy and early childhood was calculated as change in weight standard deviation score (SDS), using the French growth reference values. An upward gain in weight ≥0.67 SDS during these periods was considered indicative of overweight and/or obesity. RESULTS: Ten cases of PHP type 1A were identified (mean age 41.1 months, range from 4 to 156 months). In children aged ≤2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%). In older children, brachydactyly was present in 60% of cases. Seizures occurred in older children (3 cases). Short stature was common at all ages. Subclinical hypothyroidism was present in 70%, increased parathormone (PTH) in 83%, and hyperphosphatemia in 50%. Only one case presented with hypocalcemia. Erythrocyte Gsα activity tested in seven children was reduced; GNAS1 gene testing was performed in 9 children. Maternal transmission was the most common (six patients). In three other cases, the mutations were de novo, c.585delGACT in exon 8 (case 2) and c.344C>TP115L in exon 5 (cases 6&7). CONCLUSION: Based on our results, PHP type 1A should be considered in toddlers presenting with round face, rapid weight gain, subcutaneous ossifications, and subclinical hypothyroidism. In older children, moderate mental retardation, brachydactyly, afebrile seizures, short stature, and thyroid-stimulating hormone resistance are the most suggestive features.
[Mh] Termos MeSH primário: Hipotireoidismo/fisiopatologia
Obesidade/fisiopatologia
Pseudo-Hipoparatireoidismo/diagnóstico
Pseudo-Hipoparatireoidismo/fisiopatologia
Ganho de Peso/fisiologia
[Mh] Termos MeSH secundário: Adolescente
Braquidactilia/fisiopatologia
Criança
Pré-Escolar
Cromograninas/genética
Nanismo/fisiopatologia
Eritrócitos/metabolismo
Feminino
Subunidades alfa Gs de Proteínas de Ligação ao GTP/sangue
Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética
Subunidades alfa Gs de Proteínas de Ligação ao GTP/metabolismo
Seres Humanos
Lactente
Deficiência Intelectual/fisiopatologia
Masculino
Mutação
Pseudo-Hipoparatireoidismo/genética
Estudos Retrospectivos
Convulsões/fisiopatologia
Sensibilidade e Especificidade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chromogranins); EC 3.6.1.- (GNAS protein, human); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170418
[Lr] Data última revisão:
170418
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160729
[St] Status:MEDLINE
[do] DOI:10.4274/jcrpe.2743



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