A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K (2020)
Molecular genetics & genomic medicine 8(9): e1167.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Staretz-Chacham, Orna; Schlotawa, Lars; Wormser, Ohad; Golan-Tripto, Inbal; Birk, Ohad S; Ferreira, Carlos R; Dierks, ThomasUniBi; Radhakrishnan, KarthikeyanUniBi
Abstract / Bemerkung
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. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
Erscheinungsjahr
2020
Zeitschriftentitel
Molecular genetics & genomic medicine
Band
8
Ausgabe
9
Art.-Nr.
e1167
eISSN
2324-9269
Finanzierungs-Informationen
Open-Access-Publikationskosten wurden durch die Universität Bielefeld im Rahmen des DEAL-Vertrags gefördert.
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https://pub.uni-bielefeld.de/record/2941491

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Staretz-Chacham O, Schlotawa L, Wormser O, et al. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Molecular genetics & genomic medicine. 2020;8(9): e1167.
Staretz-Chacham, O., Schlotawa, L., Wormser, O., Golan-Tripto, I., Birk, O. S., Ferreira, C. R., Dierks, T., et al. (2020). A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Molecular genetics & genomic medicine, 8(9), e1167. doi:10.1002/mgg3.1167
Staretz-Chacham, O., Schlotawa, L., Wormser, O., Golan-Tripto, I., Birk, O. S., Ferreira, C. R., Dierks, T., and Radhakrishnan, K. (2020). A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Molecular genetics & genomic medicine 8:e1167.
Staretz-Chacham, O., et al., 2020. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Molecular genetics & genomic medicine, 8(9): e1167.
O. Staretz-Chacham, et al., “A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.”, Molecular genetics & genomic medicine, vol. 8, 2020, : e1167.
Staretz-Chacham, O., Schlotawa, L., Wormser, O., Golan-Tripto, I., Birk, O.S., Ferreira, C.R., Dierks, T., Radhakrishnan, K.: A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Molecular genetics & genomic medicine. 8, : e1167 (2020).
Staretz-Chacham, Orna, Schlotawa, Lars, Wormser, Ohad, Golan-Tripto, Inbal, Birk, Ohad S, Ferreira, Carlos R, Dierks, Thomas, and Radhakrishnan, Karthikeyan. “A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.”. Molecular genetics & genomic medicine 8.9 (2020): e1167.
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