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A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Staretz-Chacham, Orna; Schlotawa, Lars; Wormser, Ohad; Golan-Tripto, Inbal; Birk, Ohad S; Ferreira, Carlos R; Dierks, Thomas; Radhakrishnan, Karthikeyan.
Afiliación
  • Staretz-Chacham O; Metabolic Clinic, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Schlotawa L; Neonatlogy Unit, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Wormser O; Division of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Golan-Tripto I; Department of Paediatrics and Adolescent Medicine, University Medical Center, Goettingen, Germany.
  • Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
  • Ferreira CR; Shraga Segal Department of Microbiology, Immunology and Genetics, Ben Gurion University of the Negev, Beer-Sheva, Israel.
  • Dierks T; Division of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
  • Radhakrishnan K; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
Mol Genet Genomic Med ; 8(9): e1167, 2020 09.
Article en En | MEDLINE | ID: mdl-32048457
BACKGROUND: Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of natural history, knowledge gained from individual case studies forms the source for a reliable diagnosis and consultation of patients and parents. METHODS: We collected clinical records as well as genetic and metabolic test results from two MSD patients. The functional properties of a novel SUMF1 variant were analyzed after expression in a cell culture model. RESULTS: We report on two MSD patients-the first neonatal type reported in Israel-both presenting with this most severe manifestation of MSD. Our patients showed uniform clinical symptoms with persistent pulmonary hypertension, hypotonia, and dysmorphism at birth. Both patients were homozygous for the same novel SUMF1 mutation (c.1043C>T, p.A348V). Functional analysis revealed that the SUMF1-encoded variant of formylglycine-generating enzyme is highly instable and lacks catalytic function. CONCLUSION: The obtained results confirm genotype-phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Mutación Missense / Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro / Enfermedad por Deficiencia de Múltiples Sulfatasas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Mutación Missense / Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro / Enfermedad por Deficiencia de Múltiples Sulfatasas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos