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BMC Medical Genetics

, 18:2

Clinical-Molecular Genetics and Cytogenetics

Abstract

BackgroundNance-Horan Syndrome NHS OMIM: 302350 is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males.

MethodsHere, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing combined with RT-PCR and Sanger sequencing was used to search for a genetic cause underlying the disease phenotype.

ResultsWhole-exome sequencing identified in all affected individuals of the family a novel donor splicing site mutation NM 198270: c.1045 + 2T > A in intron 4 of the gene NHS, which maps to chromosome Xp22.13. The identified mutation results in an RNA processing defect causing a 416-nucleotide addition to exon 4 of the mRNA transcript, likely producing a truncated NHS protein.

ConclusionsThe donor splicing site mutation NM 198270: c.1045 + 2T > A of the NHS gene is the causative mutation in this Nance-Horan Syndrome family. This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS.

KeywordsCongenital cataract Exome sequencing Sanger sequencing Splice site RT-PCR AbbreviationsEBVEpstein-Barr virus

InDelInsertions and deletions

IRBInstitutional Review Board

NHSNance-Horan syndrome

NHSNHS gene

NMDNonsense mediated decay

SKLMGState Key Laboratory of Medical Genetics

SNVsSingle nucleotide variants

WAVEWASP family Verprolin-homologous

Electronic supplementary materialThe online version of this article doi:10.1186-s12881-016-0360-9 contains supplementary material, which is available to authorized users.

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Autor: Qi Tian - Yunping Li - Rizwana Kousar - Hui Guo - Fenglan Peng - Yu Zheng - Xiaohua Yang - Zhigao Long - Runyi Tian - Kun

Fuente: https://link.springer.com/







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