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

BACKGROUND: Nance-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 manifestatio...

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Autores principales: Tian, Qi, Li, Yunping, Kousar, Rizwana, Guo, Hui, Peng, Fenglan, Zheng, Yu, Yang, Xiaohua, Long, Zhigao, Tian, Runyi, Xia, Kun, Lin, Haiying, Pan, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219716/
https://www.ncbi.nlm.nih.gov/pubmed/28061824
http://dx.doi.org/10.1186/s12881-016-0360-9
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author Tian, Qi
Li, Yunping
Kousar, Rizwana
Guo, Hui
Peng, Fenglan
Zheng, Yu
Yang, Xiaohua
Long, Zhigao
Tian, Runyi
Xia, Kun
Lin, Haiying
Pan, Qian
author_facet Tian, Qi
Li, Yunping
Kousar, Rizwana
Guo, Hui
Peng, Fenglan
Zheng, Yu
Yang, Xiaohua
Long, Zhigao
Tian, Runyi
Xia, Kun
Lin, Haiying
Pan, Qian
author_sort Tian, Qi
collection PubMed
description BACKGROUND: Nance-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. METHODS: Here, 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. RESULTS: Whole-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. CONCLUSIONS: The 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 MATERIAL: The 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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spelling pubmed-52197162017-01-10 A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family Tian, Qi Li, Yunping Kousar, Rizwana Guo, Hui Peng, Fenglan Zheng, Yu Yang, Xiaohua Long, Zhigao Tian, Runyi Xia, Kun Lin, Haiying Pan, Qian BMC Med Genet Research Article BACKGROUND: Nance-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. METHODS: Here, 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. RESULTS: Whole-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. CONCLUSIONS: The 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 MATERIAL: The online version of this article (doi:10.1186/s12881-016-0360-9) contains supplementary material, which is available to authorized users. BioMed Central 2017-01-07 /pmc/articles/PMC5219716/ /pubmed/28061824 http://dx.doi.org/10.1186/s12881-016-0360-9 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Tian, Qi
Li, Yunping
Kousar, Rizwana
Guo, Hui
Peng, Fenglan
Zheng, Yu
Yang, Xiaohua
Long, Zhigao
Tian, Runyi
Xia, Kun
Lin, Haiying
Pan, Qian
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
title A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
title_full A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
title_fullStr A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
title_full_unstemmed A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
title_short A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
title_sort novel nhs mutation causes nance-horan syndrome in a chinese family
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219716/
https://www.ncbi.nlm.nih.gov/pubmed/28061824
http://dx.doi.org/10.1186/s12881-016-0360-9
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