A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, Obolensky A, Ben-Yosef T, Gross M, Dierks T, Banin E, et al. (2018)
GENETICS IN MEDICINE 20(9): 1004-1012.
Zeitschriftenaufsatz
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Autor*in
Khateb, Samer;
Kowalewski, BjörnUniBi;
Bedoni, Nicola;
Damme, Markus;
Pollack, Netta;
Saada, Ann;
Obolensky, Alexey;
Ben-Yosef, Tamar;
Gross, Menachem;
Dierks, ThomasUniBi;
Banin, Eyal;
Rivolta, Carlo
Alle
Alle
Einrichtung
Abstract / Bemerkung
Purpose: We aimed to identify the cause of disease in patients suffering from a distinctive, atypical form of Usher syndrome. Methods: Whole-exome and genome sequencing were performed in five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and sensorineural hearing loss. Functional analysis of the wild-type and mutant proteins was performed in human fibrosarcoma cells. Results: We identified a homozygous founder missense variant, c. 133G> T (p. D45Y) in arylsulfatase G (ARSG). All patients shared a distinctive retinal phenotype with ring-shaped atrophy along the arcades engirdling the fovea, resulting in ring scotoma. In addition, patients developed moderate to severe sensorineural hearing loss. Both vision and hearing loss appeared around the age of 40 years. The identified variant affected a fully conserved amino acid that is part of the catalytic site of the enzyme. Functional analysis of the wild-type and mutant proteins showed no basal activity of p.D45Y. Conclusion: Homozygosity for ARSG-p.D45Y in humans leads to protein dysfunction, causing an atypical combination of late-onset Usher syndrome. Although there is no evidence for generalized clinical manifestations of lysosomal storage diseases in this set of patients, we cannot rule out the possibility that mild and late-onset symptoms may appear.
Stichworte
arylsulfatase G;
lysosomal storage disease;
retinitis pigmentosa;
Usher;
syndrome;
whole-exome sequencing
Erscheinungsjahr
2018
Zeitschriftentitel
GENETICS IN MEDICINE
Band
20
Ausgabe
9
Seite(n)
1004-1012
ISSN
1098-3600
eISSN
1530-0366
Page URI
https://pub.uni-bielefeld.de/record/2931507
Zitieren
Khateb S, Kowalewski B, Bedoni N, et al. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. GENETICS IN MEDICINE. 2018;20(9):1004-1012.
Khateb, S., Kowalewski, B., Bedoni, N., Damme, M., Pollack, N., Saada, A., Obolensky, A., et al. (2018). A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. GENETICS IN MEDICINE, 20(9), 1004-1012. doi:10.1038/gim.2017.227
Khateb, Samer, Kowalewski, Björn, Bedoni, Nicola, Damme, Markus, Pollack, Netta, Saada, Ann, Obolensky, Alexey, et al. 2018. “A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans”. GENETICS IN MEDICINE 20 (9): 1004-1012.
Khateb, S., Kowalewski, B., Bedoni, N., Damme, M., Pollack, N., Saada, A., Obolensky, A., Ben-Yosef, T., Gross, M., Dierks, T., et al. (2018). A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. GENETICS IN MEDICINE 20, 1004-1012.
Khateb, S., et al., 2018. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. GENETICS IN MEDICINE, 20(9), p 1004-1012.
S. Khateb, et al., “A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans”, GENETICS IN MEDICINE, vol. 20, 2018, pp. 1004-1012.
Khateb, S., Kowalewski, B., Bedoni, N., Damme, M., Pollack, N., Saada, A., Obolensky, A., Ben-Yosef, T., Gross, M., Dierks, T., Banin, E., Rivolta, C., Sharon, D.: A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. GENETICS IN MEDICINE. 20, 1004-1012 (2018).
Khateb, Samer, Kowalewski, Björn, Bedoni, Nicola, Damme, Markus, Pollack, Netta, Saada, Ann, Obolensky, Alexey, Ben-Yosef, Tamar, Gross, Menachem, Dierks, Thomas, Banin, Eyal, Rivolta, Carlo, and Sharon, Dror. “A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans”. GENETICS IN MEDICINE 20.9 (2018): 1004-1012.
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AUTHOR UNKNOWN, 0
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
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AUTHOR UNKNOWN, 0
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