Identification of a Novel<i>NHS</i>Mutation in a Chinese Family with Nance-Horan Syndrome

Li, Aijun; Li, Bingzhen; Wu, Lemeng; Yang, Liping; Chen, Ningning; Ma, Zhizhong

doi:10.3109/02713683.2014.959606

Cited by 18 publications

(22 citation statements)

References 13 publications

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“…Mutations in the NHS gene have been reported from various populations throughout the world, including Turkish, Indian, Tunisian, Australian, Taiwanese, European and Chinese populations. Clinical evaluation of the available affected male subjects revealed typical NHS ocular and nonocular features that are more severe than in obligate carriers, in concordance with previous reports [8, 11, 17]. Both affected male subjects experienced profound vision loss, and one (II: 5) underwent cataract surgery.…”

Section: Discussionsupporting

confidence: 89%

“…In one study, Y-sutural posterior lens opacities associated with microcornea and dental anomalies was observed in 100% of carrier females [18, 19], though carriers presenting clear to total lens opacities with small cornea, strabismus and nystagmus have also reported [11]. In our carrier females (II: 2; III: 7), cataract was no longer observed due to cataract surgery prior to the study.…”

Section: Discussionmentioning

confidence: 65%

“…To date, at least 33 mutations [11–15], including 6 from the Chinese population, have been reported in the NHS gene, many of which are nonsense mutations or InDels, with few copy number variations and missense and splice site mutations. In this study, we report the identification of a novel splice site mutation in the NHS gene in a Chinese family with NHS.…”

Section: Introductionmentioning

confidence: 99%

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A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

Tian

Kousar

et al. 2017

BMC Med Genet

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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.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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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 65%

Section: Introductionmentioning

confidence: 99%

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A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

Tian

Kousar

et al. 2017

BMC Med Genet

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“…In this study, targeted exome capture and high‐throughput sequencing of 411 known genes involved in neuromuscular disorders were performed to identify genetic causes of an autosomal recessive GNE myopathy in a three‐generation Han‐Chinese pedigree . A homozygous missense mutation, c.1627G>A (p.V543M), in the GNE gene was found to co‐segregate with the GNE myopathy present in this family.…”

Section: Introductionmentioning

confidence: 99%

Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

Yuan

Guo

et al. 2018

J Cellular Molecular Medi

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GNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene (GNE). This study aimed to identify the disease‐causing mutation in a three‐generation Han‐Chinese family with members who have been diagnosed with myopathy. A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co‐segregates with the myopathy present in this family. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum.

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“…This suggested that this mutation could be related to the pathogenesis of Nance-Horan syndrome. Li et al (2015) identified a new 1-bp deletion in exon 4 of NHS [c.852delG(p.S285PfsX13)], by using an exon capture technology and high-throughput sequencing. Previous studies have expanded the NHS mutation spectrum, providing a foundation for the clinical diagnosis of Nance-Horan syndrome.…”

Section: Nance-horan Syndromementioning

confidence: 99%

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract

Zhang

Topolewski

et al. 2016

Genet. Mol. Res.

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Identification of a NovelNHSMutation in a Chinese Family with Nance-Horan Syndrome

Abstract: Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.

Cited by 18 publications

References 13 publications

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract

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