A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis

Autor:	Birgit Köhler, Angela Hübner, Heiko Krude, Cigdem Cetingdag, Annette Grüters, Heike Biebermann, Maki Fukami, Inge-Lore Ruiz-Arana
Rok vydání:	2015
Předmět:	Genetics Embryology medicine.medical_specialty Mutation Endocrinology Diabetes and Metabolism Gonadal dysgenesis Biology medicine.disease medicine.disease_cause Transactivation Endocrinology Hypospadias Hemizygote Internal medicine medicine Missense mutation Gene Testosterone Developmental Biology
Zdroj:	Sexual Development. 9:80-85
ISSN:	1661-5433 1661-5425
DOI:	10.1159/000371603
Popis:	MAMLD1 is suggested to play a role in the development of 46,XY disorders of sexual development (46,XY DSD). So far, mutations in this gene have been detected in several cases of hypospadias with normal testosterone levels at birth. From in vitro studies it was concluded that Mamld1 might transiently affect testosterone synthesis during genital development. We describe the first MAMLD1 mutation in a 46,XY patient with complete gonadal dysgenesis. The novel MAMLD1 missense mutation (p.P677L) results in a severely reduced transactivation in vitro of the promoter of the MAMLD1 target gene HES3/Hes3. However, as knowledge about the functional role of MAMLD1 in gonadal development is limited, we suggest that additional factors (digenic or oligogenic cause) play a role in the development of complete gonadal dysgenesis in this patient.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a2f74d3062849817f5b719695fd12e6b https://doi.org/10.1159/000371603 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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