Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism
J Zhang, SY Tang, XB Zhu, P Li, JQ Lu… - Asian journal of …, 2021 - journals.lww.com
Dozens of genes are associated with idiopathic hypogonadotropic hypogonadism (IHH) and
an oligogenic etiology has been suggested. However, the associated genes may account for
only approximately 50% cases. In addition, a genomic systematic pedigree analysis is still
lacking. Here, we conducted whole exome sequencing (WES) on 18 unrelated men affected
by IHH and their corresponding parents. Notably, one reported and 10 novel variants in
eight known IHH causative genes (AXL, CCDC141, CHD7, DMXL2, FGFR1, PNPLA6 …
an oligogenic etiology has been suggested. However, the associated genes may account for
only approximately 50% cases. In addition, a genomic systematic pedigree analysis is still
lacking. Here, we conducted whole exome sequencing (WES) on 18 unrelated men affected
by IHH and their corresponding parents. Notably, one reported and 10 novel variants in
eight known IHH causative genes (AXL, CCDC141, CHD7, DMXL2, FGFR1, PNPLA6 …