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  1 / 27 MEDLINE  
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[PMID]:26945533
[Au] Autor:Yoneda K
[Ad] Endereço:Department of Dermatology, Faculty of Medicine, Kagawa University, Kagawa, Japan.
[Ti] Título:Inherited ichthyosis: Syndromic forms.
[So] Source:J Dermatol;43(3):252-63, 2016 Mar.
[Is] ISSN:1346-8138
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.
[Mh] Termos MeSH primário: Ictiose/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Alopecia/genética
Condrodisplasia Punctata/genética
Surdez/genética
Feminino
Doenças Genéticas Ligadas ao Cromossomo X/genética
Perda Auditiva Neurossensorial/genética
Seres Humanos
Eritrodermia Ictiosiforme Congênita/genética
Ictiose/classificação
Ictiose/patologia
Ceratite/genética
Deformidades Congênitas dos Membros/genética
Erros Inatos do Metabolismo Lipídico/genética
Masculino
Doença da Deficiência de Múltiplas Sulfatases/genética
Doenças Musculares/genética
Síndrome de Netherton/genética
Fotofobia/genética
Doença de Refsum/genética
Síndrome de Sjogren-Larsson/genética
Síndrome
Síndromes de Tricotiodistrofia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170123
[Lr] Data última revisão:
170123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160307
[St] Status:MEDLINE
[do] DOI:10.1111/1346-8138.13284


  2 / 27 MEDLINE  
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[PMID]:26825355
[Au] Autor:Miskin C; Melvin JJ; Legido A; Wenger DA; Harasink SM; Khurana DS
[Ad] Endereço:Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania.
[Ti] Título:A Patient With Atypical Multiple Sulfatase Deficiency.
[So] Source:Pediatr Neurol;57:98-100, 2016 Apr.
[Is] ISSN:1873-5150
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder. PATIENT DESCRIPTION: We present a 4-year-old girl with clinical findings of microcephaly, spondylolisthesis and neurological regression without ichthyosis, coarse facies, and organomegaly. RESULTS: The child's magnetic resonance imaging demonstrated confluent white matter abnormalities involving the periventricular and deep cerebral white matter with the U-fibers relatively spared. Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. The diagnosis of multiple sulfatase deficiency was pursued when genetic testing for metachromatic leukodystrophy was negative. CONCLUSION: This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.
[Mh] Termos MeSH primário: Doença da Deficiência de Múltiplas Sulfatases/diagnóstico por imagem
Substância Branca/diagnóstico por imagem
[Mh] Termos MeSH secundário: Cerebrosídeo Sulfatase/sangue
Pré-Escolar
Feminino
Glicina/análogos & derivados
Glicina/genética
Seres Humanos
Imagem por Ressonância Magnética
Doença da Deficiência de Múltiplas Sulfatases/sangue
Doença da Deficiência de Múltiplas Sulfatases/fisiopatologia
Mutação/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
11F24CG16M (N-formylglycine); EC 3.1.6.8 (Cerebroside-Sulfatase); TE7660XO1C (Glycine)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160131
[St] Status:MEDLINE


  3 / 27 MEDLINE  
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[PMID]:25885655
[Au] Autor:Sabourdy F; Mourey L; Le Trionnaire E; Bednarek N; Caillaud C; Chaix Y; Delrue MA; Dusser A; Froissart R; Garnotel R; Guffon N; Megarbane A; Ogier de Baulny H; Pédespan JM; Pichard S; Valayannopoulos V; Verloes A; Levade T
[Ad] Endereço:Laboratoire de Biochimie Métabolique, IFB, CHU Purpan, Toulouse, France. frederique.sabourdy@inserm.fr.
[Ti] Título:Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
[So] Source:Orphanet J Rare Dis;10:31, 2015 Mar 15.
[Is] ISSN:1750-1172
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Multiple sulfatase deficiency is a rare inherited metabolic disorder caused by mutations in the SUMF1 gene. The disease remains poorly known, often leading to a late diagnosis. This study aimed to provide improved knowledge of the disease, through complete clinical, biochemical, and molecular descriptions of a cohort of unrelated patients. The main objective was to identify prognostic markers, both phenotypic and genotypic, to accelerate the diagnosis and improve patient care. METHODS: The phenotypes of ten unrelated patients were fully documented at the clinical and biochemical levels. The long-term follow-up of each patient allowed correlations of the phenotypes to the disease outcomes. Each patient's molecular defects were also identified. Site-directed mutagenesis was used to individually express the mutants and assess their stability. Characterisation of the protein mutants was completed by in silico analyses based on sequence comparisons and structural models. RESULTS: The most severe cases were characterised by the presence of non-neurological symptoms as well as the occurrence of psychomotor regression before 2 years of age. Nine novel SUMF1 mutations were identified. Clinically severe forms were often associated with SUMF1 mutations that strongly affected the protein stability and/or catalytic function as predicted from in silico and western blot analyses. CONCLUSIONS: This detailed clinical description and follow-up of a cohort of patients, together with the molecular characterisation of their underlying defects, contribute to improved knowledge of multiple sulfatase deficiency. Predictors of a bad prognosis were the presence of several non-neurological symptoms and the onset of psychomotor regression before 2 years of age. No strict correlation existed between in vitro residual sulfatase activity and disease severity. Genotype-phenotype correlations related to previously reported mutants were strengthened. These and previous observations allow not only improved prediction of the disease outcome but also provision of appropriate care for patients, in the expectation of specific treatment development.
[Mh] Termos MeSH primário: Doença da Deficiência de Múltiplas Sulfatases/genética
Doença da Deficiência de Múltiplas Sulfatases/metabolismo
Sulfatases/metabolismo
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Feminino
Regulação Enzimológica da Expressão Gênica
Genótipo
Células HEK293
Seres Humanos
Lactente
Recém-Nascido
Masculino
Mutagênese Sítio-Dirigida
Mutação
Fenótipo
Conformação Proteica
Sulfatases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.1.6.- (SUMF1 protein, human); EC 3.1.6.- (Sulfatases)
[Em] Mês de entrada:1601
[Cu] Atualização por classe:150420
[Lr] Data última revisão:
150420
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150418
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-015-0244-7


  4 / 27 MEDLINE  
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[PMID]:25565547
[Au] Autor:Volpi N; Coppa GV; Zampini L; Maccari F; Galeotti F; Garavelli L; Galeazzi T; Padella L; Santoro L; Gabrielli O
[Ti] Título:Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency.
[So] Source:Clin Chem Lab Med;53(7):e157-60, 2015 Jun.
[Is] ISSN:1437-4331
[Cp] País de publicação:Germany
[La] Idioma:eng
[Mh] Termos MeSH primário: Glicosaminoglicanos/sangue
Glicosaminoglicanos/urina
Doença da Deficiência de Múltiplas Sulfatases/sangue
Doença da Deficiência de Múltiplas Sulfatases/urina
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Seres Humanos
Recém-Nascido
[Pt] Tipo de publicação:CASE REPORTS; LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Glycosaminoglycans)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:161018
[Lr] Data última revisão:
161018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150108
[St] Status:MEDLINE


  5 / 27 MEDLINE  
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[PMID]:25818962
[Au] Autor:Nur BG; Mihçi E; Pepe S; Biberoglu G; Ezgü FS; Ballabio A; Öztekin O; Dursun O
[Ad] Endereço:Division of Pediatric Genetics, Department of Pediatrics, Akdeniz University, Faculty of Medicine, Antalya, Turkey. emihci@akdeniz.edu.tr.
[Ti] Título:Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
[So] Source:Turk J Pediatr;56(4):418-22, 2014 Jul-Aug.
[Is] ISSN:0041-4301
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Multiple sulfatase deficiency is a rare autosomal recessive disorder in which affected individuals present a complex phenotype due to the impaired activity of all sulfatases. There are different types of multiple sulfatase deficiency; among them, the neonatal form is the most severe, with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. The disorder is caused by homozygous or compound heterozygous mutations in the sulfatase-modifying factor-1 (SUMF1) gene. In this article, we describe a non-ichthyotic neonatal multiple sulfatase deficiency patient with a novel mutation in the SUMF1 gene. The missense mutation c.777C>G, for which the patient was homozygous, had been caused by a p.N259K amino acid substitution. We evaluated the patient using clinical findings, neuroimaging studies and molecular analysis via the literature; we also wanted to note the difficulties in the diagnosis of this rare disease.
[Mh] Termos MeSH primário: DNA/genética
Doença da Deficiência de Múltiplas Sulfatases/genética
Mutação
Sulfatases/genética
[Mh] Termos MeSH secundário: Análise Mutacional de DNA
Feminino
Seres Humanos
Recém-Nascido
Imagem por Ressonância Magnética
Doença da Deficiência de Múltiplas Sulfatases/diagnóstico
Doença da Deficiência de Múltiplas Sulfatases/metabolismo
Fenótipo
Sulfatases/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
9007-49-2 (DNA); EC 3.1.6.- (Sulfatases)
[Em] Mês de entrada:1603
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150331
[St] Status:MEDLINE


  6 / 27 MEDLINE  
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[PMID]:25524633
[Au] Autor:Frankel LB; Di Malta C; Wen J; Eskelinen EL; Ballabio A; Lund AH
[Ad] Endereço:Biotech Research and Innovation Center, University of Copenhagen, 2200 Copenhagen, Denmark.
[Ti] Título:A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.
[So] Source:Nat Commun;5:5840, 2014 Dec 19.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sulfatases are key enzymatic regulators of sulfate homeostasis with several biological functions including degradation of glycosaminoglycans (GAGs) and other macromolecules in lysosomes. In a severe lysosomal storage disorder, multiple sulfatase deficiency (MSD), global sulfatase activity is deficient due to mutations in the sulfatase-modifying factor 1 (SUMF1) gene, encoding the essential activator of all sulfatases. We identify a novel regulatory layer of sulfate metabolism mediated by a microRNA. miR-95 depletes SUMF1 protein levels and suppresses sulfatase activity, causing the disruption of proteoglycan catabolism and lysosomal function. This blocks autophagy-mediated degradation, causing cytoplasmic accumulation of autophagosomes and autophagic substrates. By targeting miR-95 in cells from MSD patients, we can effectively increase residual SUMF1 expression, allowing for reactivation of sulfatase activity and increased clearance of sulfated GAGs. The identification of this regulatory mechanism opens the opportunity for a unique therapeutic approach in MSD patients where the need for exogenous enzyme replacement is circumvented.
[Mh] Termos MeSH primário: Lisossomos/metabolismo
MicroRNAs/metabolismo
Doença da Deficiência de Múltiplas Sulfatases/metabolismo
Sulfatos/metabolismo
[Mh] Termos MeSH secundário: Autofagia
Glicosaminoglicanos/metabolismo
Seres Humanos
Lisossomos/enzimologia
MicroRNAs/genética
Doença da Deficiência de Múltiplas Sulfatases/enzimologia
Doença da Deficiência de Múltiplas Sulfatases/genética
Doença da Deficiência de Múltiplas Sulfatases/fisiopatologia
Sulfatases/genética
Sulfatases/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Glycosaminoglycans); 0 (MIRN95 microRNA, human); 0 (MicroRNAs); 0 (Sulfates); EC 3.1.6.- (SUMF1 protein, human); EC 3.1.6.- (Sulfatases)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141220
[St] Status:MEDLINE
[do] DOI:10.1038/ncomms6840


  7 / 27 MEDLINE  
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[PMID]:25516103
[Au] Autor:Garavelli L; Santoro L; Iori A; Gargano G; Braibanti S; Pedori S; Melli N; Frattini D; Zampini L; Galeazzi T; Padella L; Pepe S; Wischmeijer A; Rosato S; Ivanovski I; Iughetti L; Gelmini C; Bernasconi S; Superti-Furga A; Ballabio A; Gabrielli O
[Ad] Endereço:Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. garavelli.livia@asmn.re.it.
[Ti] Título:Multiple sulfatase deficiency with neonatal manifestation.
[So] Source:Ital J Pediatr;40:86, 2014 Dec 17.
[Is] ISSN:1824-7288
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G).
[Mh] Termos MeSH primário: DNA/genética
Doença da Deficiência de Múltiplas Sulfatases/genética
Mutação
Sulfatases/genética
[Mh] Termos MeSH secundário: Análise Mutacional de DNA
Feminino
Seres Humanos
Recém-Nascido
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA); EC 3.1.6.- (SUMF1 protein, human); EC 3.1.6.- (Sulfatases)
[Em] Mês de entrada:1601
[Cu] Atualização por classe:150430
[Lr] Data última revisão:
150430
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141218
[St] Status:MEDLINE
[do] DOI:10.1186/s13052-014-0086-2


  8 / 27 MEDLINE  
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[PMID]:25373814
[Au] Autor:Prasad C; Rupar CA; Campbell C; Napier M; Ramsay D; Tay KY; Sharan S; Prasad AN
[Ad] Endereço:Departments of Paediatrics,Western University,London,Ontario,Canada.
[Ti] Título:Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
[So] Source:Can J Neurol Sci;41(5):626-31, 2014 Sep.
[Is] ISSN:0317-1671
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of lysosomal metabolism. The clinical phenotypic spectrum encompasses overlapping features of variable severity and is suggestive of individual single sulfatase deficiencies (i.e., metachromatic leukodystrophy, mucopolysaccharidosis, and X-linked ichthyosis). CASE REPORT: We describe a 3-year-old male with severe hypotonia, developmental regression and progressive neurodegeneration, coarse facial features, nystagmus (from ocular albinism), and dysmyelinating motor sensory neuropathy. Ethics approval was obtained from the Western University Ontario. RESULTS: Extensive investigative work-up identified deficiencies of multiple sulfatases: heparan sulfate sulfamidase: 6.5 nmoles/mg/protein/17 hour (reference 25.0-75.0), iduronate-2-sulfate sulfatase: 9 nmol/mg/protein/4 hour (reference 31-110), and arylsulfatase A: 3.8 nmoles/hr/mg protein (reference 22-50). The identification of compound heterozygous pathogenic mutations in the SUMF1 gene c.836 C>T (p.A279V) and c.1045C>T (p.R349W) confirmed the diagnosis of MSD. CONCLUSION: The complex clinical manifestations of MSD and the unrelated coexistence of ocular albinism as in our case can delay diagnosis. Genetic counselling should be provided to all affected families.
[Mh] Termos MeSH primário: Albinismo Ocular/complicações
Albinismo Ocular/diagnóstico
Doença da Deficiência de Múltiplas Sulfatases/complicações
Doença da Deficiência de Múltiplas Sulfatases/diagnóstico
[Mh] Termos MeSH secundário: Albinismo Ocular/genética
Pré-Escolar
Diagnóstico Diferencial
Seres Humanos
Masculino
Doença da Deficiência de Múltiplas Sulfatases/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1606
[Cu] Atualização por classe:141106
[Lr] Data última revisão:
141106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141107
[St] Status:MEDLINE
[do] DOI:10.1017/cjn.2014.12


  9 / 27 MEDLINE  
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[PMID]:25222778
[Au] Autor:Kotecha UH; Movva S; Sharma D; Verma J; Puri RD; Verma IC
[Ti] Título:Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.
[So] Source:Indian J Med Res;140(1):55-9, 2014 Jul.
[Is] ISSN:0971-5916
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:BACKGROUND & OBJECTIVES: Multiple suphphatase deficiency (MSD) is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1). We describe here the mutation analysis of a case of MSD. METHODS: The proband was a four year old boy with developmental delay followed by neuroregression. He had coarse facies, appendicular hypertonia, truncal ataxia and ichthyosis limited to both lower limbs. Radiographs showed dysostosis multiplex. Clinical suspicion of MSD was confirmed by enzyme analysis of four enzymes of the sulphatase group. RESULTS: The patient was compound heterozygote for a c.451A>G (p.K151E) substitution in exon 3 and a single base insertion mutation (c.690_691 InsT) in exon 5 in the SUMF1 gene. The bioinformatic analysis of the missense mutation revealed no apparent effect on the overall structure. However, the mutated 151-amino acid residue was found to be adjacent to the substrate binding and the active site residues, thereby affecting the substrate binding and/or catalytic activity, resulting in almost complete loss of enzyme function. CONCLUSIONS: The two mutations identified in the present case were novel. This is perhaps the first report of an insertion mutation in SUMF1 causing premature truncation of the protein.
[Mh] Termos MeSH primário: Deficiências do Desenvolvimento/genética
Disostoses/genética
Doença da Deficiência de Múltiplas Sulfatases/genética
Mutagênese Insercional/genética
Mutação de Sentido Incorreto/genética
Sulfatases/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Biologia Computacional
Disostoses/diagnóstico por imagem
Seres Humanos
Masculino
Radiografia
Sulfatases/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.- (SUMF1 protein, human); EC 3.1.6.- (Sulfatases)
[Em] Mês de entrada:1504
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140916
[St] Status:MEDLINE


  10 / 27 MEDLINE  
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[PMID]:24484558
[Au] Autor:Meng Y; Zhang WM; Shi HP; Yao FX; Qiu ZQ; Yang T; Zhao SM; Huang SZ
[Ad] Endereço:Department of Medical Genetics,Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, WHO Collaborating Project for Community Control of Hereditary Disease, Beijing 100005, China.
[Ti] Título:[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
[So] Source:Zhonghua Er Ke Za Zhi;51(11):836-41, 2013 Nov.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: Multiple sulfatase deficiency is a rare autosomal recessively inherited lysosomal storage disorder characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The aim of this study was to explore the clinical manifestations, enzyme activities and SUMF1 gene mutations in two Chinese patients with multiple sulfatase deficiency. METHOD: One boy and one girl from two families were studied. Both patients presented with mental retardation, mild coarse facial features, a neurodegenerative course of disease with loss of sensory and motor function after 2 years of age, ichthyosis and skeletal abnormalities (kyphosis or/and scoliosis). Clinical characteristics indicate multiple sulfatase deficiency.Sulfatases activities in blood leucocytes, plasma or cultured fibroblast of the patients were measured.Genomic DNAs were extracted from peripheral blood leukocytes from the patients and their parents. All SUMF1 gene exons and intron-exon boundaries were amplified by PCR and subjected for direct sequencing. RESULT: In case 1, five sulfatases activities of blood leucocytes and four sulfatases of cultured skin-fibroblasts were analyzed.In case 2, three sulfatases activities of blood leucocytes were tested.Significantly decreased sulfatases activities confirmed the diagnosis of multiple sulfatase deficiency.On SUMF1 gene, c.793_794 insATG (p. P265X)/ c.1045C>T (p.R349W) in case 1 and c.451A>G (p.K151E)/ c.1046G>C (p.R349Q) in case 2 were detected, respectively. Three novel mutations c.793_794insAGT, c.1046G>C and c.451A>G were identified. CONCLUSIONS: Multiple sulfatase deficiency usually results in multi-organ damage, especially neurologic, skeletal and skin.Sulfatases assay and SUMF1 gene analysis are necessary for the diagnosis. Two Chinese cases with multiple sulfatase deficiency were firstly reported. Three novel mutations were found.It should be considered that the mutation profile of SUMF1 gene in Chinese patients is different from other populations.
[Mh] Termos MeSH primário: Doença da Deficiência de Múltiplas Sulfatases/diagnóstico
Doença da Deficiência de Múltiplas Sulfatases/genética
Mutação/genética
Sulfatases/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas
Criança
Pré-Escolar
Análise Mutacional de DNA
Feminino
Seres Humanos
Deficiência Intelectual/etiologia
Deficiência Intelectual/patologia
Leucócitos/metabolismo
Masculino
Doença da Deficiência de Múltiplas Sulfatases/metabolismo
Reação em Cadeia da Polimerase
Sulfatases/deficiência
Sulfatases/metabolismo
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.1.6.- (SUMF1 protein, human); EC 3.1.6.- (Sulfatases)
[Em] Mês de entrada:1409
[Cu] Atualização por classe:160607
[Lr] Data última revisão:
160607
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140204
[St] Status:MEDLINE



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