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Genomics. 2016 Dec;108(5-6):209-215. doi: 10.1016/j.ygeno.2016.10.006. Epub 2016 Oct 29.

Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients.

Author information

1
Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea.
2
Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea. Electronic address: kbkwack@cha.ac.kr.

Abstract

Premature ovarian failure (POF) is characterized by heterogeneous genetic causes such as chromosomal abnormalities and variants in causal genes. Recently, development of techniques made next generation sequencing (NGS) possible to detect genome wide variants including chromosomal abnormalities. Among 37 Korean POF patients, XY karyotype with distal part deletions of Y chromosome, Yp11.32-31 and Yp12 end part, was observed in two patients through NGS. Six deleterious variants in POF genes were also detected which might explain the pathogenesis of POF with abnormalities in the sex chromosomes. Additionally, the two POF patients had no mutation in SRY but three non-synonymous variants were detected in genes regarding sex reversal. These findings suggest candidate causes of POF and sex reversal and show the propriety of NGS to approach the heterogeneous pathogenesis of POF.

KEYWORDS:

Abnormal Y chromosome; Next generation sequencing; Premature ovarian failure; X haploinsufficiency

PMID:
27989800
DOI:
10.1016/j.ygeno.2016.10.006
[Indexed for MEDLINE]

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