Can I read Genetics of Congenital Hypogonadotropic Hypogonadism: Peculiarities and Phenotype of an Oligogenic Disease on EtoBox?

Genetics of Congenital Hypogonadotropic Hypogonadism: Peculiarities and Phenotype of an Oligogenic Disease by Biagio Cangiano; Du Soon Swee; Richard Quinton; Marco Bonomi is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Genetics of Congenital Hypogonadotropic Hypogonadism: Peculiarities and Phenotype of an Oligogenic Disease about?

A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next-generation sequencing (NGS) techniques have led to the discovery of a great number of loci, each of which has illuminated our understanding of human gonadotropin-releasing hormone (GnRH) neurons, either in respect of their embryonic development or their neuroendocrine regulation as the "pilot light" of human reproduction. However, because each new gene linked to CHH only seems to underpin another small percentage of total patient cases, we are still far from achieving a comprehensive understanding of the genetic basis of CHH. Patients have generally not benefited from advances in genetics in respect of novel therapies. In most cases, even genetic counselling is limited by issues of apparent variability in expressivity and penetrance that are likely underpinned by oligogenicity in respect of known and unknown genes. Robust genotype-phenotype relationships can generally only be established for individuals who are homozygous, hemizygous or compound heterozygotes for the same gene of variant alleles that are predicted

Who reads Genetics of Congenital Hypogonadotropic Hypogonadism: Peculiarities and Phenotype of an Oligogenic Disease?

Author

Biagio Cangiano; Du Soon Swee; Richard Quinton; Marco Bonomi

Publisher

Springer Science and Business Media LLC

Published

2020

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)