Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.

ABSTRACT:

Context

The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined.

Objective

To determine the role of copy number variants (CNVs) in IHH pathogenicity and define their phenotypic spectrum.

Methods

Exome sequencing (ES) data in IHH probands (n = 1394) (Kallmann syndrome [IHH with anosmia; KS], n = 706; normosmic IHH [nIHH], n = 688) and family members (n = 1092) at the Reproductive Endocrine Unit and the Center for Genomic Medicine of Massachusetts General Hospital were analyzed for CNVs and single nucleotide variants (SNVs)/indels in 62 known IHH genes. IHH subjects without SNVs/indels in known genes were considered "unsolved." Phenotypes associated with CNVs were evaluated through review of patient medical records. A tot

SUBMITTER: Stamou MI 

PROVIDER: S-EPMC9282252 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature