The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

European Journal of Human Genetics : EJHG
Manèl ChograniHabiba Chaabouni Bouhamed

Abstract

Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene. Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. Both variations P551S and c.8239 T>A segregate with NHS phenotype in this family. Although truncations, frame-shift and copy number variants have been reported in this gene, no missense mutations have been found to segregate previously. This is the first report of a missense NHS mutation causing NHS phenotype (including cardiac defects). We hypothesize also that the non-reported UTR-SNP of the exon 8 (3'-UTR) is specific to the Tunisian population.

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Citations

Jan 5, 2014·European Journal of Medical Genetics·Hao Deng, Lamei Yuan
Aug 6, 2014·Journal of Zhejiang University. Science. B·Nan HongYang-shun Gu
May 31, 2017·Current Eye Research·Nadav ShoshanyEran Pras
Jan 24, 2018·European Journal of Human Genetics : EJHG·Molka KammounJoris Robert Vermeesch
Feb 7, 2018·Scientific Reports·Huajin LiRuifang Sui
Apr 4, 2019·Molecular Medicine Reports·Meirong WeiBinbin Wang
Sep 13, 2016·American Journal of Medical Genetics. Part a·Hans GjørupJohn R Ostergaard
Jun 2, 2021·Orphanet Journal of Rare Diseases·Xinru LiWei Xiao

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