title: Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients.
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.
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea.
authors.forename: Yujung
authors.initials: Y
authors.lastname: Lee
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea.
authors.forename: Changshin
authors.initials: C
authors.lastname: Kim
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea.
authors.forename: YoungJoon
authors.initials: Y
authors.lastname: Park
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea.
authors.forename: Jung-A
authors.initials: JA
authors.lastname: Pyun
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea. Electronic address: kbkwack@cha.ac.kr.
authors.forename: KyuBum
authors.initials: K
authors.lastname: Kwack
mesh_terms: D044466:Asian People / Q000235:genetics; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D017422:Sequence Analysis, DNA
keywords: Abnormal Y chromosome; Next generation sequencing; Premature ovarian failure; X haploinsufficiency