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.
References
Jan 1, 1990·Ophthalmology·R A LewisD Stambolian
Nov 1, 1990·Human Genetics·D ZhuI H Maumenee
Oct 1, 1990·Journal of Medical Genetics·I R WalpoleA Nicoll
Jul 1, 1984·Clinical Genetics·D BixlerJ Hartsfield
Jul 1, 1994·Human Heredity·A A SchäfferR W Cottingham
Aug 22, 1997·American Journal of Medical Genetics·A ToutainC Moraine
Sep 12, 2000·Human Genetics·W He, S Li
Feb 7, 2001·Genome Research·L Brocchieri
Feb 12, 2002·Journal of Medical Genetics·P J FrancisS S Bhattacharya
Aug 13, 2002·European Journal of Human Genetics : EJHG·Annick ToutainBrunella Franco
Oct 18, 2003·American Journal of Human Genetics·Kathryn P BurdonJamie E Craig
Oct 7, 2004·Journal of Medical Genetics·S P BrooksA J Hardcastle
Dec 30, 2004·Investigative Ophthalmology & Visual Science·Vedam Lakshmi RamprasadGovindasamy Kumaramanickavel
Jan 22, 2005·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Sally Hibbert
Jun 1, 2006·European Journal of Human Genetics : EJHG·Ralph J FlorijnArthur A B Bergen
Apr 25, 2007·Prenatal Diagnosis·Adi RechesRon Tepper
Feb 28, 2008·Journal of Structural and Functional Genomics·Ryan M BannenGeorge N Phillips
May 6, 2009·Human Molecular Genetics·Margherita CocciaAlison J Hardcastle
May 19, 2009·Experimental Cell Research·Shiwani SharmaJamie E Craig
Nov 28, 2009·Ophthalmic Genetics·Xiaoyan DingChi-Chao Chan
Mar 25, 2010·Human Molecular Genetics·Simon P BrooksAlison J Hardcastle
Citations
Jul 26, 2014·PloS One·Rodrigo Roncato PereiraAparecido Divino da Cruz
Jan 5, 2014·European Journal of Medical Genetics·Hao Deng, Lamei Yuan
Oct 1, 2014·Current Eye Research·Aijun LiZhizhong Ma
Aug 6, 2014·Journal of Zhejiang University. Science. B·Nan HongYang-shun Gu
Apr 10, 2013·Gene·Esra TugFerda E Percin
Oct 24, 2015·Briefings in Bioinformatics·Khader ShameerRamanathan Sowdhamini
May 31, 2017·Current Eye Research·Nadav ShoshanyEran Pras
Sep 19, 2017·Ophthalmic Genetics·Laura Gómez-LagunaVerónica Fabiola Morán-Barroso
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
Jul 17, 2014·Molecular Cytogenetics·Irene Plaza PintoAparecido Divino da Cruz
Oct 9, 2021·Molecular Cytogenetics·Caroline MillerBin Zhang