Exclusion of WNT4 as a major gene in Rokitansky‐Küster‐Hauser anomaly

Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome

“…To date, mutations of the WNT4 gene have not been demonstrated in patients with typical and atypical variants of MRKH syndrome presenting without hyperandrogenism (8,9). We conducted this study to investigate the presence of molecular WNT4 gene alterations in a group of 6 Brazilian patients with MRKH syndrome who were referred to a tertiary infertility center, all complaining of primary amenorrhea.…”

Mullerian dysgenesis: a critical review of the literature

“…However, virilization is never observed in MRKH syndrome, and therefore, the loss-of-function mutations of Wnt4 are not likely to be the cause of the syndrome in its original presentation [16]. Moreover, sequencing of the WNT4 gene in 19 MRKH patients reinforced the notion that Wnt4 mutations leads to an MRKH-like syndrome associated with hyperandrogenism, which might be a distinct clinical and genetic entity from MRKH syndrome [65,67,68]. Additional studies involving mutational analysis of the WNT4 gene in women with MRKH syndrome have reached similar conclusions and exclude WNT4 as a major gene responsible for MRKH without virilization [36,59,67,69].…”

Genetic aspects of vagina and the uterus aplasia: the history

“…Однако ген Wnt4 не единственный ген-кандидат, мутации в котором могли бы приводить к аномалиям при MРKХ [36,37]. Выявлен еще один важный ген -Hnf1β, который экспрессируется у мышей в пече-ни и желчных протоках, поджелудочной железе, протоках почек, а также в эпителии половых путей в процессе эмбриогенеза и после рождения.…”