The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

Chograni, Manèl; Rejeb, Imen; Jemaa, Lamia Ben; Chaâbouni, M; Bouhamed, Habiba Chaabouni

doi:10.1038/ejhg.2011.52

Cited by 21 publications

(10 citation statements)

References 21 publications

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“…To date, approximately 27 mutations in the NHS gene have been identified (Burdon et al, 2003;Brooks et al, 2004;Ramprasad et al, 2005;Florijn et al, 2006;Huang et al, 2007;Sharma et al, 2008;Coccia et al, 2009;Chograni et al, 2011;Khan et al, 2012;Tug et al, 2013), including nonsense mutations, frameshift mutations, genomic rearrangements, and one missense mutation. In this study, we identified a novel nonsense mutation c.322G>T (E108X) in the NHS gene's exon 1 in a family with NHS by a combination of exome sequencing and Sanger sequencing.…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

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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“…40,43 Furthermore, developmental delay, variable mental retardation, 40,44 autism is more inconsistent, 40 and some present congenital cardiac defects. 43,45 Affected males have severe bilateral congenital dense nuclear cataracts and others ophthalmological features, including microphthalmia, microcornea, nystagmus, and strabismus. Dental abnormalities consist of screwdriver-shaped incisors and bud molars in both the primary and the permanent dentition, ST maxillary incisors have been emphasized as major phenotypic traits and diastema.…”

Section: Nance-horan Syndromementioning

confidence: 99%

Main genetic entities associated with supernumerary teeth

Cammarata‐Scalisi

Avendaño

Callea

2018

Arch Argent Pediatr

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Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than females. The etiology is heterogeneous, highly variable and most of the cases are idiopathic. However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial displasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein-Taybi syndrome, Nance-Horan syndrome, Opitz G/BBB syndrome, oculofaciocardiodental syndrome and Robinow syndrome (autosomal dominant). The supernumerary teeth should be considered in order to possibly diagnose these entities with the aim of offering an interdisciplinary management and treatment, as well as offer adequate family genetic counseling.

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“…40,43 Además, se observa retraso del desarrollo, retraso mental variable, 40,44 autismo inconsistente 40 y algunos defectos cardíacos congénitos. 43,45 Los varones afectados presentan catarata nuclear congénita densa y bilateral y otras características oftalmológicas, por ejemplo, microftalmia, microcórnea, nistagmo y estrabismo. Las anomalías dentales incluyen incisivos en forma de destornillador y brotes molaresen los dientes de leche y permanentes, y los DS en el incisivo superior se han destacado como los rasgos fenotípicos más importantes, junto con el diastema.…”

Section: Síndrome De Nance-horanunclassified

Principales entidades genéticas asociadas con dientes supernumerarios

2018

Arch Argent Pediatr

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The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

Cited by 21 publications

References 21 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

Main genetic entities associated with supernumerary teeth

Principales entidades genéticas asociadas con dientes supernumerarios

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