Mutations of the AMH type II receptor in two extended families with persistent Müllerian duct syndrome: lack of phenotype/genotype correlation

Hormone Research in Pædiatrics
Mohammad AbduljabbarNathalie Josso

Abstract

Our goal was to compare phenotype and genotype in two extended Middle-Eastern families affected by persistent Müllerian duct syndrome due to mutations of the type II anti-Müllerian hormone receptor (AMHR-II). The first, consanguineous, family consisted of 6 boys and 2 girls, the second consisted of 4 girls and 2 boys. In family I, 4 boys and 1 girl were homozygous for a stop mutation in the 9th exon of AMHR-II, removing part of the intracellular domain of the protein. In family II, 1 girl and 1 boy were homozygous for a transversion changing conserved histidine 254 into a glutamine. Both homozygous girls were normal. In the homozygous males, the degree of development of Müllerian derivatives was variable. The uterus was well developed in 2 boys of family I and in the patient from family II; however, in 1 subject from family I, Müllerian derivatives were undetectable. Taken together, the diversity of clinical symptoms within the same sibship and the lack of correlation between the development of the Müllerian derivatives and the severity of the molecular defects suggest highly variable penetrance of the abnormal alleles and/or the existence of other genetic or epigenetic modifiers of gene expression.

Citations

Jan 3, 2014·International Journal of Endocrinology·Nathalie JossoJean-Yves Picard
May 14, 2014·Human Reproduction Update·Simone L BroerBart C J M Fauser
Jan 9, 2013·Arquivos brasileiros de endocrinologia e metabologia·Mirian Yumie NishiBerenice Bilharinho de Mendonca
Jul 25, 2019·Frontiers in Endocrinology·Luca De ToniAndrea Garolla
Oct 6, 2020·Frontiers in Endocrinology·Nathalie Josso, Rodolfo A Rey
Oct 8, 2020·Journal of Endocrinological Investigation·E UnalY K Haspolat
Jul 14, 2019·Developmental Biology·Rachel D MullenRichard R Behringer
Feb 11, 2015·Journal of Cell Science·Tal HirschhornMarcelo Ehrlich

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