Whole Exome Sequencing Revealed a Novel Nonsense Variant in the < b > < i > GNRHR < /i > < /b > Gene < b > < i > < /i > < /b > Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family

Conclusion: We report the first homozygous nonsense mutation in theGNRHR gene (chr4: g. 68619942G#x3e;A, c.112C#x3e;T, p. Arg38*) that is associated with familial nCHH. Hence, our study displayed a good correlation of the genotype and phenotype of nCHH patients.Horm Res Paediatr 2019;91:1 –8
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research