Ophthalmic Pathology of Nance-Horan Syndrome: Case Report and Review of the Literature

Ding, Xiaoyan; Patel, Mrinali; Herzlich, Alexandra A.; Sieving, Pamela C.; Chan, Chi‐Chao

doi:10.1080/13816810902822021

Cited by 27 publications

(24 citation statements)

References 26 publications

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“…This substitution was conserved in seven tested species, confirming it as a co-segregating disease-causing mutation in the family. NHS is a rare X-linked disorder, usually underdiagnosed by ophthalmologists with subtle nonocular manifestations that are easily overlooked (Ding et al, 2009). The affected males in the Chinese family presented with congenital dense cataract, microcornea, nystagmus, and strabismus; nonocular symptoms were not investigated at the initial meeting.…”

Section: Discussionmentioning

confidence: 99%

“…Dental abnormalities characteristic of NHS consist of screwdriver-shaped incisors, supernumerary maxillary incisors (mesiodens), and diastema (Walpole et al, 1990). Heterozygous females display similar, but milder clinical manifestations than affected males (Ding et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

“…Affected male patients often manifest bilateral congenital dense nuclear cataracts, characteristic dental anomalies, craniofacial abnormalities, and, in some cases, mental retardation (MR) (Toutain et al, 1997;Ding et al, 2009). Congenital dense nuclear cataracts in affected males usually lead to profound vision loss; thus, cataract surgery should be performed at an early age (Burdon et al, 2003).…”

Section: Introductionmentioning

confidence: 99%

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Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Hong

Chen

Xie

et al. 2014

J. Zhejiang Univ. Sci. B

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Abstract:Objective: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Methods: Whole exome sequencing analysis was performed on DNA from an affected male to scan for candidate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. Results: A combination of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. Conclusions: We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Hong

Chen

Xie

et al. 2014

J. Zhejiang Univ. Sci. B

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“…A) was found in the proband and segregated appropriately in an X‐linked pattern in his sister and mother, again providing the correct diagnosis and inheritance pattern information for this family. While the digital anomaly of brachymetacarpalia has been seen in NHS [Ding et al., ], this is the first report of insertional or any form of polydactyly in this condition.…”

Section: Resultsmentioning

confidence: 90%

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

et al. 2016

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Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and glaucoma, and there can be syndromic associations. Genetic diagnosis is challenging due to marked genetic heterogeneity. In this study, next‐generation sequencing (NGS) of 32 cataract‐associated genes was undertaken in 46 apparently nonsyndromic congenital cataract probands, around half sporadic and half familial cases. We identified pathogenic variants in 70% of cases, and over 68% of these were novel. In almost two‐thirds (20/33) of these cases, this resulted in new information about the diagnosis and/or inheritance pattern. This included identification of: new syndromic diagnoses due to NHS or BCOR mutations; complex ocular phenotypes due to PAX6 mutations; de novo autosomal‐dominant or X‐linked mutations in sporadic cases; and mutations in two separate cataract genes in one family. Variants were found in the crystallin and gap junction genes, including the first report of severe microphthalmia and sclerocornea associated with a novel GJA8 mutation. Mutations were also found in rarely reported genes including MAF, VIM, MIP, and BFSP1. Targeted NGS in presumed nonsyndromic congenital cataract patients provided significant diagnostic information in both familial and sporadic cases.

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“…This syndrome should be differentiated from congenital cataract of various aetiologies, congenital syphilis (5). Fewer than 20 families have been reported in the literature which shows the rare nature of this disease (6).…”

Section: Discussionmentioning

confidence: 99%

Nance-Horan Syndrome

Chauhan¹

2017

NMJ

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Nance-Horan Syndrome is a very rare genetic disorder that may be evident at the time of birth as a congenital condition affecting eyes and teeth. As this syndrome is rare it is probably under diagnosed. In addition to dental anomalies and eye abnormalities, the patient may suffer from intellectual impairment if the patient is a male because it is inherited as an Xlinked trait. We report a case of this male predominant syndrome in a 12 year old female who presented to us with unusual dental morphology and congenital cataract.

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Ophthalmic Pathology of Nance-Horan Syndrome: Case Report and Review of the Literature

Abstract: Background-Nance-Horan syndrome (NHS) is a rare X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies due in most cases to a mutation in the NHS gene.

Cited by 27 publications

References 26 publications

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

Nance-Horan Syndrome

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