A novel small deletion in the NHS gene associated with Nance-Horan syndrome

Li, Huajin; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Wu, Shijing; Sui, Ruifang

doi:10.1038/s41598-018-20787-2

Cited by 12 publications

(12 citation statements)

References 32 publications

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“…Here, more than 50 mutations of the NHS gene accounted for pathogenic clinical conditions. Variants including missense, frame-shift (InDel) and stop-gain mutations were identified as contributors to NHS; and a 4.8 kb deletion and a 500 kb triplication were associated with X-linked cataract 40 (Additional file 4); Considering the genotypes and phenotypes of NHS and X-linked cataracts, we found that NHS was mostly resulted from the point mutation and micro InDel [14–16], while the X-linked cataract was caused by large-scale recombination of the NHS gene, which was predicted to result in altered transcriptional regulation of the NHS gene. However, this difference could not be used to define NHS and X-linked cataract [9], since a microdeletion of 170,6 kb at Xp22.13 was detected in an Italian boy with NHS syndrome [15].…”

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

et al. 2019

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BackgroundNance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations.MethodsIn this study, we present a three-generation family with NHS. Whole exome sequencing was performed to determine the potential pathogenic variant in the proband. Further validation was explored with Sanger sequencing in 9 of the available individuals of the family and additional 200 controls.ResultsA novel truncation mutation in gene NHS (c.C4449G, p.Tyr1483Ter) was found in the proband, who presented with a long-narrow face, prominent nose and large anteverted pinnae ear, screw-driver like incisors, mild mulberry like molars, one missing maxillary second molar and malocclusion. We found this mutation was detected in 2 male patients and 4 female carriers in the family. However, the mutation was never detected in the control subjects.ConclusionsIn conclusion, we identified a novel truncation mutation in the NHS gene, which might associate with NHS. Our review on the NHS studies illustrated that NHS has significantly clinical heterogeneity. And NHS mutations in the NHS-affected individuals typically result in premature truncation of the protein. And the new mutation revealed in this study would highlight the understanding of the causative mutations of NHS.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0725-3) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

et al. 2019

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“…[ 2 , 3 ] Another X-linked recessive disorder is Nance Horan syndrome resulted severe bilateral congenital cataracts in which males have congenital nuclear cataracts. [ 4 ] Down syndrome is a common chromosomal disorder of chromosome 21, causes mental disability and delayed growth. Children with Down syndrome have a greater risk of ocular abnormalities such as congenital cataracts.…”

Section: Introductionmentioning

confidence: 99%

Mapping of global research output in congenital cataracts from 1903 to 2021

et al. 2021

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Background and aim: Globally, congenital cataract remains one of the main causes of visual loss in children. This study was designed to plot the overall research output and evaluate some key bibliometric indicators in congenital cataracts research. Methods: Publications on congenital cataracts were retrieved from the Web of Science Core Collection database. The published literature was searched using the keywords “congenital cataract” OR “congenital cataracts” in the title filed with document types and language restrictions. The data were exported into HistCite to analyze; publication year, top authors, countries, institutions, journals, keywords, and most cited studies. VOSviewer software was used to construct network visualization mapping. Results: A total of 1427 publications (1903–2021) published in English language were included in this study. Over the past few decades, the total number of publications in congenital cataracts was found to be increased. The most productive year was 2016 (n = 72), while the most cited year was 1941 (1268 citations). The Investigative Ophthalmology & Visual Science (Impact Factor: 4.799) was the most attractive journal with 161 publications, and the Molecular Vision (Impact Factor : 2.367) was the most cited journal with 1915 citations and 161.723 citations per year. The most productive country was the United States of America (USA) (n = 325), while the most active institute was Sun Yat-sen University, China (n = 36). The most prolific author was Yao K (n = 27). The most studied Web of Science category was ophthalmology (n = 852). The most widely used keyword was congenital (n = 1427). The most cited paper in congenital cataracts was “Congenital cataract following German measles in the mother, cited 1268 times. The USA and author keyword congenital cataract had the highest total link strength. Conclusion: These findings provide useful insights, current status, and trends in clinical research in congenital cataracts. This study can be used to identify future research areas and standard bibliography references for better diagnosis and disease control.

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“…To date, more than 40 mutations associated with NHS have been reported, originating from China, Australia, India, the United Kingdom, the United States of America and Turkey [21,27] . Most of the identified mutations are nonsense or indel, while others are frameshift mutations, genomic rearrangements and missense mutations [12] . The underlying consequence of these mutations can be classified into two categories.…”

Section: Resultsmentioning

confidence: 99%

“…NHS protein plays an important role in the development of ocular lens, tooth, midbrain, thus its mutations can lead to congenital cataract, dental anomalies and, in some cases, mental retardation [10] . Previous studies have discovered more than 40 mutations in the NHS gene including frameshift mutations, nonsense mutations, missense mutations, deletion mutations and genomic rearrangements [11][12][13] . Here, we report a novel a frameshift deletion in the NHS gene (c.3916_3919del) and characterize the clinical features of a Chinese pedigree with this syndrome.…”

Section: Introductionmentioning

confidence: 99%

A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family

Sun¹,

Sun²,

Wang³

et al. 2022

Int J Ophthalmol

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AIM: To identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS). METHODS: A Chinese family, including four affected patients and four healthy siblings, was recruited. All family members received ophthalmic examinations with medical histories provided. Targeted next-generation sequencing approach was conducted on the two affected males to screen for their disease-causing mutations. RESULTS: Two male family members diagnosed with NHS manifested bilateral congenital cataracts microcornea, strabismus and subtle facial and dental abnormalities, while female carriers presented posterior Y-sutural cataracts. A novel frameshift mutation (c.3916_3919del) in the NHS gene was identified. This deletion was predicted to alter the reading frame and generate a premature termination codon after a new reading frame. CONCLUSION: The study discovers a new frameshift mutation in a Chinese family with NHS. The findings broaden the spectrum of NHS mutations that can cause NHS in Chinese patients.

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A novel small deletion in the NHS gene associated with Nance-Horan syndrome

Cited by 12 publications

References 32 publications

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

Mapping of global research output in congenital cataracts from 1903 to 2021

A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family

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