Database : MEDLINE
Search on : brachydactyly [Words]
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[PMID]: 29514872
[Au] Autor:Shabbir RMK; Nalbant G; Ahmad N; Malik S; Tolun A
[Ad] Address:Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
[Ti] Title:Homozygous mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.
[So] Source:J Med Genet;, 2018 Mar 07.
[Is] ISSN:1468-6244
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease. Chst11-deficient mouse has severe chondrodysplasia, congenital arthritis and neonatal lethality. We searched for the causative variant for the unusual combination of limb malformations with variable expressivity accompanied by skeletal defects in a consanguineous Pakistani kindred. METHODS: We performed detailed clinical investigations in family members. Homozygosity mapping using SNP genotype data was performed to map the disease locus and exome sequencing to identify the underlying molecular defect. RESULTS: The limb malformations include brachydactyly, overriding digits and clino-symphalangism in hands and feet and syndactyly and hexadactyly in feet. Skeletal defects include scoliosis, dislocated patellae and fibulae and pectus excavatum. The disease locus is mapped to a 1.6 Mb region at 12q23, harbouring a homozygous in-frame deletion of 15 nucleotides in Novel variant c.467_481del (p.L156_N160del) is deduced to lead to the deletion of five evolutionarily highly conserved amino acids and predicted as damaging to protein by in silico analysis. Our findings confirm the crucial role of CHST11 in skeletal morphogenesis and show that defects have variable manifestations that include a variety of limb malformations and skeletal defects.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher

  2 / 1072 MEDLINE  
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[PMID]: 29499646
[Au] Autor:Pereda A; Garin I; Perez de Nanclares G; Spanish Network for Imprinting Disorders
[Ad] Address:Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, OSI Araba University Hospital, C/ Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
[Ti] Title:What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
[So] Source:BMC Med Genet;19(1):32, 2018 Mar 02.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. In addition, the features of the AHO phenotype are not specific to it and a similar phenotype is also commonly observed in other syndromes. Brachydactyly type E (BDE) is the most specific and objective feature of the AHO phenotype, and several genes have been associated with syndromic BDE in the past few years. Moreover, these syndromes have a skeletal and endocrinological phenotype that overlaps with AHO/PHP. In light of the above, we have developed an algorithm to aid in genetic testing of patients with clinical features of AHO but with no causative molecular defect at the GNAS locus. Starting with the feature of brachydactyly, this algorithm allows the differential diagnosis to be broadened and, with the addition of other clinical features, can guide genetic testing. METHODS: We reviewed our series of patients (n = 23) with a clinical diagnosis of AHO and with brachydactyly type E or similar pattern, who were negative for GNAS anomalies, and classify them according to the diagnosis algorithm to finally propose and analyse the most probable gene(s) in each case. RESULTS: A review of the clinical data for our series of patients, and subsequent analysis of the candidate gene(s), allowed detection of the underlying molecular defect in 12 out of 23 patients: five patients harboured a mutation in PRKAR1A, one in PDE4D, four in TRPS1 and two in PTHLH. CONCLUSIONS: This study confirmed that the screening of other genes implicated in syndromes with BDE and AHO or a similar phenotype is very helpful for establishing a correct genetic diagnosis for those patients who have been misdiagnosed with "AHO-like phenotype" with an unknown genetic cause, and also for better describing the characteristic and differential features of these less common syndromes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1186/s12881-018-0530-z

  3 / 1072 MEDLINE  
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[PMID]: 29240611
[Au] Autor:Schirwani S; Smith K; Balasubramanian M
[Ad] Address:Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds.
[Ti] Title:Clinical and molecular characterization of the first familial report of 1p32 microdeletion.
[So] Source:Clin Dysmorphol;27(2):36-41, 2018 Apr.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. We describe the inheritance of the 1p32 deletion and discuss the relevance of this deletion to the described phenotype. The differences in clinical and molecular characteristics between the proband and other published reports are reviewed. Patients were evaluated in Genetics Clinic with history, examination and investigation. The existing literature on interstitial deletions of 1p was reviewed. Here, we report on a three-generation family, where the index patient was an adult female with learning difficulty, dysmorphic features, microcephaly, ambiguous genitalia, congenital hip dislocation and brachydactyly in whom a maternally inherited 1.45 Mbp interstitial deletion was detected at 1p32.3. Both her mother and maternal grandmother have learning difficulties and dysmorphic features. There are 14 OMIM genes in the deleted region including LRP8 and DMRTB1. The NFIA gene is not deleted in this family. The first report of a familial 1p32 microdeletion in three generations of a family carrying the smallest reported a deletion involving this region and brachydactyly as a previously unreported feature.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Process
[do] DOI:10.1097/MCD.0000000000000209

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[PMID]: 29485259
[Au] Autor:Puvabanditsin S; February M; Stefano VD; Vinod S; Minerowicz C; Hussein K; Mayne J; Mehta R
[Ti] Title:Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review.
[So] Source:Genet Couns;27(2):149-57, 2016.
[Is] ISSN:1015-8146
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Osteocraniosplenic syndrome-hypomineralized skull with gracile long bones and splenic hypoplasia: a case report and literature review: We report herein an intrauterine growth-restricted preterm nwonate with a lethal bone dysplasia characterized by severe hypomineralization of the skull, absent medullary lucency flared metaphyses fishbone-like diaphysis and overtubulated long vones. Dysmorphic features included flat facies, bulging forehead, vevus flammeus, depressed nasas bridge, short philtrum, inverted U-shape mouth, mild micrometic dwarfism, and brachydactyly. The infant's lungs and spleen were hypoplastic. The findings are compatible with the 19 previously reported cases that used different terminology: osteocraniostenosis, gracile bone disorders and osteocraniosplenic syndrome. We present the clinical, pathological and cytogenetic findings of this rare disorder.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process

  5 / 1072 MEDLINE  
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[PMID]: 29464738
[Au] Autor:Sentchordi-Montané L; Aza-Carmona M; Benito-Sanz S; Barreda-Bonis AC; Sánchez-Garre C; Prieto-Matos P; Ruiz-Ocaña P; Lechuga-Sancho A; Carcavilla-Urquí A; Mulero-Collantes I; Martos-Moreno GA; Del Pozo A; Vallespín E; Offiah A; Parrón-Pajares M; Dinis I; Sousa SB; Ros-Pérez P; González-Casado I; E Heath K
[Ad] Address:Dept. of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.
[Ti] Title:Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
[So] Source:Clin Endocrinol (Oxf);, 2018 Feb 21.
[Is] ISSN:1365-2265
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, Spondyloepiphyseal dysplasia, Kimberley type (SEDK) and osteochondritis dissecans, as well as in a severe recessive dysplasia, Spondyloepimetaphyseal dysplasia, aggrecan type. Next generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis. DESIGN & METHODS: Clinical and genetic characterization of 16 probands with heterozygous ACAN variants, 14 with short stature and mild skeletal defects (group 1) and two with SEDK (group 2). Subsequently, we reviewed the literature to determine the frequency of the different clinical characteristics in ACAN positive individuals. RESULTS: A total of 16 ACAN variants were located throughout the gene, six pathogenic mutations and 10 variants of unknown significance (VUS). Interestingly, brachydactyly was observed in all probands. Probands from group 1, with a pathogenic mutation tended to be shorter and 60% had an advanced BA compared to 0% in those with a VUS. A higher incidence of coxa valga was observed in individuals with a VUS (37% v 0%). Nevertheless, other features were present at similar frequencies. CONCLUSIONS: ACAN should be considered as a candidate gene in patients with short stature and minor skeletal defects, particularly those with brachydactyly, and in patients with spondyloepiphyseal dysplasia. It is also important to note that advanced BA and osteoarticular complications are not obligatory conditions for aggrecanopathies/aggrecan-associated dysplasias. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180221
[Lr] Last revision date:180221
[St] Status:Publisher
[do] DOI:10.1111/cen.13581

  6 / 1072 MEDLINE  
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[PMID]: 29341480
[Au] Autor:Piard J; Lespinasse J; Vlckova M; Mensah MA; Iurian S; Simandlova M; Malikova M; Bartsch O; Rossi M; Lenoir M; Nugues F; Mundlos S; Kornak U; Stanier P; Sousa SB; Van Maldergem L
[Ad] Address:Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
[Ti] Title:Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
[So] Source:Am J Med Genet A;176(3):668-675, 2018 Mar.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. This disorder called Lenz-Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid biosynthesis. This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between PTDSS1 and extra cellular matrix assembly.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.38604

  7 / 1072 MEDLINE  
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[PMID]: 29436063
[Au] Autor:Ullah A; Umair M; Hussain S; Jan A; Ahmad W
[Ad] Address:Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
[Ti] Title:Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
[So] Source:Pediatr Int;, 2018 Feb 13.
[Is] ISSN:1442-200X
[Cp] Country of publication:Australia
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:Publisher
[do] DOI:10.1111/ped.13473

  8 / 1072 MEDLINE  
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[PMID]: 29429567
[Au] Autor:Benvenuto P; Attarian A
[Ad] Address:Department of Radiology Montreal Children's Hospital McGill University Health Centre (MUHC) Montreal, Canada.
[Ti] Title:Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly.
[So] Source:J Pediatr;, 2018 Feb 08.
[Is] ISSN:1097-6833
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:Publisher

  9 / 1072 MEDLINE  
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[PMID]: 29359479
[Au] Autor:Nomura R; Miyai K; Nishimura G; Kashimada K; Morio T
[Ad] Address:Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Ibaraki, Japan.
[Ti] Title:Myhre syndrome: Age-dependent progressive phenotype.
[So] Source:Pediatr Int;59(11):1205-1206, 2017 Nov.
[Is] ISSN:1442-200X
[Cp] Country of publication:Australia
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Process
[do] DOI:10.1111/ped.13413

  10 / 1072 MEDLINE  
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[PMID]: 29280743
[Au] Autor:Turan S
[Ad] Address:Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey.
[Ti] Title:Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
[So] Source:J Clin Res Pediatr Endocrinol;9(Suppl 2):58-68, 2017 Dec 30.
[Is] ISSN:1308-5735
[Cp] Country of publication:Turkey
[La] Language:eng
[Ab] Abstract:Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of pseudohypoparathyroidism (PHP). The disease was first described and named by Fuller Albright and colleagues in 1942. Albright hereditary osteodystrophy (AHO) is described as an associated clinical entity with PHP, characterized by brachydactyly, subcutaneous ossifications, round face, short stature and a stocky build. The classification of PHP is further divided into PHP-Ia, pseudo-PHP (pPHP), PHP-Ib, PHP-Ic and PHP-II according to the presence or absence of AHO, together with an in vivo response to exogenous PTH and the measurement of Gsα protein activity in peripheral erythrocyte membranes in vitro. However, PHP classification fails to differentiate all patients with different clinical and molecular findings for PHP subtypes and classification become more complicated with more recent molecular characterization and new forms having been identified. So far, new classifications have been established by the EuroPHP network to cover all disorders of the PTH receptor and its signaling pathway. Inactivating PTH/PTH-related protein signaling disorder (iPPSD) is the new name proposed for a group of these disorders and which can be further divided into subtypes - iPPSD1 to iPPSD6. These are termed, starting from PTH receptor inactivation mutation (Eiken and Blomstrand dysplasia) as iPPSD1, inactivating Gsα mutations (PHP-Ia, PHP-Ic and pPHP) as iPPSD2, loss of methylation of GNAS DMRs (PHP-Ib) as iPPSD3, PRKAR1A mutations (acrodysostosis type 1) as iPPSD4, PDE4D mutations (acrodysostosis type 2) as iPPSD5 and PDE3A mutations (autosomal dominant hypertension with brachydactyly) as iPPSD6. iPPSDx is reserved for unknown molecular defects and iPPSDn+1 for new molecular defects which are yet to be described. With these new classifications, the aim is to clarify the borders of each different subtype of disease and make the classification according to molecular pathology. The iPPSD group is designed to be expandable and new classifications will readily fit into it as necessary.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180204
[Lr] Last revision date:180204
[St] Status:In-Process
[do] DOI:10.4274/jcrpe.2017.S006


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