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

Maria I StamouHarrison BrandMei WangIsaac WongMargaret F LippincottLacey PlummerWilliam F CrowleyMichael TalkowskiStephanie SeminaraRavikumar Balasubramanian

Published in: The Journal of clinical endocrinology and metabolism (2022)

CNVs in known genes contribute to ~2% of IHH pathogenesis. Predictably, multigenic contiguous CNVs resulted in syndromic phenotypes. Syndromic phenotypes resulting from single gene CNVs validate pleiotropy of some IHH genes. Genome sequencing approaches are now needed to identify novel genes and/or other elusive variants (eg, noncoding/complex structural variants) that may explain the remaining missing etiology of IHH.

Keyphrases

copy number
genome wide
mitochondrial dna
dna methylation
genome wide identification
intellectual disability
bioinformatics analysis
risk factors
genome wide analysis
replacement therapy
autism spectrum disorder