GREB1L as a Candidate Gene of Mayer-Rokitansky-K üster-Hauser Syndrome.

GREB1L as a Candidate Gene of Mayer-Rokitansky-Küster-Hauser Syndrome. Eur J Med Genet. 2021 Feb 03;:104158 Authors: Barffour IK, Baah Kwarkoh RK Abstract Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a sex development disorder that affects 1 in every 4,500 live 46, XX female births. At least a subset of MRKH syndrome is genetically related and many candidate genes have been identified. The growth regulation by estrogen in breast cancer 1-like gene (GREB1L) is an androgen-regulated gene reported as a co-activator of the retinoic acid receptor gene (RAR). Thus expression levels of GREB1L have implications in renal system cellular differentiation, morphogenesis, and homeostasis in vertebrates. Variants of GREB1L have been reported in familial and sporadic MRKH Syndrome and more importantly, in a three-generation family of a familial case. Variants of GREB1L have also been identified in isolated bilateral renal agenesis and deafness both of which are extra-genital tract anomalies in MRKH type 2. Again, renal agenesis mice have been produced from an E13.5 CRISPR/cas9 GREB1L mutagenesis. Though no GREB1L mutation has been reported in cardiac malformation, it is known that GREB1L is involved in ventricular development. In this mini-review, available evidence that projects GREB1L as a candidate gene for Mayer-Rokitansky-Küster-Hauser Syndrome is interrogated. PMID: 33548512 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research