期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 24, 期 1, 页码 135-138出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2015.107
关键词
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资金
- National Institute for Health Research Biomedical Research Centre (NIHR BRC) at Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH)
- UCL Institute of Child Health
- NIHR BRC
- Newlife Foundation [SG/08-09/03]
- Great Ormond Street Hospital Childrens Charity [V2115] Funding Source: researchfish
Primary ovarian insufficiency (POI) is a distressing cause of infertility in young women. POI is heterogeneous with only a few causative genes having been discovered so far. Our objective was to determine the genetic cause of POI in a consanguineous Lebanese family with two affected sisters presenting with primary amenorrhoea and an absence of any pubertal development. Multipoint parametric linkage analysis was performed. Whole-exome sequencing was done on the proband. Linkage analysis identified a locus on chromosome 7 where exome sequencing successfully identified a homozygous two base pair duplication (c.1947_48dupCT), leading to a truncated protein p.(Y650Sfs*22) in the STAG3 gene, confirming it as the cause of POI in this family. Exome sequencing combined with linkage analyses offers a powerful tool to efficiently find novel genetic causes of rare, heterogeneous disorders, even in small single families. This is only the second report of a STAG3 variant; the first STAG3 variant was recently described in a phenotypically similar family with extreme POI. Identification of an additional family highlights the importance of STAG3 in POI pathogenesis and suggests it should be evaluated in families affected with POI.
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