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

AbstractOBJECTIVE:
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.
AuthorsNan Hong, Yan-hua Chen, Chen Xie, Bai-sheng Xu, Hui Huang, Xin Li, Yue-qing Yang, Ying-ping Huang, Jian-lian Deng, Ming Qi, Yang-shun Gu
JournalJournal of Zhejiang University. Science. B (J Zhejiang Univ Sci B) Vol. 15 Issue 8 Pg. 727-34 (Aug 2014) ISSN: 1862-1783 [Electronic] China
PMID25091991 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Codon, Nonsense
  • Membrane Proteins
  • NHS protein, human
  • Nuclear Proteins
Topics
  • Amino Acid Sequence
  • Asian People (genetics)
  • Base Sequence
  • Cataract (congenital, genetics)
  • China
  • Codon, Nonsense
  • Conserved Sequence
  • DNA Mutational Analysis
  • Exons
  • Female
  • Genetic Diseases, X-Linked (genetics)
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins (genetics)
  • Pedigree
  • Phenotype
  • Sequence Homology, Amino Acid
  • Tooth Abnormalities (genetics)

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