Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

The Journal of Clinical Endocrinology and Metabolism
Yavuz BayramJames R Lupski

Abstract

Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hypergonadotropic hypogonadism. Responsible genes include those with roles in gonadal development or maintenance, sex steroid synthesis, or end-organ resistance to gonadotropins. Identification of novel causative genes in this disorder will contribute to our understanding of the regulation of human reproductive function. The aim of this study was to identify and report the gene responsible for autosomal-recessive hypergonadotropic hypogonadism in two unrelated families. Clinical evaluation and whole-exome sequencing were performed in two pairs of sisters with nonsyndromic hypergonadotropic hypogonadism from two unrelated families. Exome sequencing analysis revealed two different truncating mutations in the same gene: SOHLH1 c.705delT (p.Pro235fs*4) and SOHLH1 c.27C>G (p.Tyr9stop). Both mutations were unique to the families and segregation was consistent with Mendelian expectations for an autosomal-recessive mode of inheritance. Sohlh1 was kn...Continue Reading

Citations

Mar 23, 2018·Human Molecular Genetics·Anlu ChenDavid A Buchner
Oct 14, 2017·Endocrine Reviews·JoAnne S RichardsAleksandar Rajkovic
Oct 4, 2016·Endocrine Reviews·Elena J TuckerAndrew H Sinclair
Sep 8, 2016·The Journal of Clinical Endocrinology and Metabolism·Justine BouillyNadine Binart
May 16, 2017·The Journal of Clinical Investigation·Yong-Hyun ShinAleksandar Rajkovic
Feb 27, 2020·Journal of the Endocrine Society·Monica Malheiros França, Berenice Bilharinho Mendonca
May 2, 2019·The Journal of Clinical Endocrinology and Metabolism·Angad JollyJames R Lupski
Oct 20, 2020·Clinical Obstetrics and Gynecology·Rukayat O Akande, Yetunde Ibrahim

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