Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.
Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and mental retardation. The disease has been linked to a novel gene termed NHS located at Xp22.13. The majority of pathogenic mutations of the disease include nonsense mutations and small deletions and insertions that lead to truncation of the NHS protein. In this study, we identified a microdeletion of ∼ 0.92 Mb at Xp22.13 detected by array-based comparative genomic hybridization in two brothers presenting congenital cataract, dental anomalies, facial dysmorphisms and mental retardation. The deleted region encompasses the REPS2, NHS, SCML1 and RAI2 genes, and was transmitted from their carrier mother who presented only mild cataract. Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.
Liao
Hsiao-Mei
HM
Institute of Biotechnology and Graduate Program of Biotechnology in Medicine, National Tsing-Hua University, Hsinchu, Taiwan.
Niu
Dau-Ming
DM
Chen
Yan-Jang
YJ
Fang
Jye-Siung
JS
Chen
Shih-Jen
SJ
Chen
Chia-Hsiang
CH
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000151:congenital / Q000235:genetics; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D018389:Codon, Nonsense; D005190:Family; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D013624:Taiwan; D014071:Tooth Abnormalities / Q000235:genetics; D055815:Young Adult
D018389:Codon, Nonsense