title: Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome.
abstract: Müllerian agenesis, also termed the Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS) is a disorder with an incidence of approximately 1 in 4500 newborn girls. This study screened 12 patients with MRKHS for mutations in two genes, LAMC1 and DLGH1, involved in the development of Müllerian structures and found 10 previously described variants and no novel variants in the coding sequence. It is highly unlikely that these variants are pathological since these are common in the general population. It is the first time that an extensive study of LAMC1 and DLGH1 has been undertaken in patients with MRKHS. The data support the notion that mutations in the coding sequence of LAMC1 and DLGH1 may not be associated with MRKHS.
authors.affiliation: UPMC Université Paris 06, Paris, France. cravel@pasteur.fr
authors.forename: Celia
authors.initials: C
authors.lastname: Ravel
authors.forename: Anu
authors.initials: A
authors.lastname: Bashamboo
authors.forename: Joelle
authors.initials: J
authors.lastname: Bignon-Topalovic
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Siffroi
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.forename: Emile
authors.initials: E
authors.lastname: Darai
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000235:genetics*; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001483:Base Sequence; D015331:Cohort Studies; D000013:Congenital Abnormalities; D030541:Databases, Genetic; D000074288:Discs Large Homolog 1 Protein; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D007797:Laminin / Q000235:genetics*; D008565:Membrane Proteins; D008954:Models, Biological; D009095:Mullerian Ducts / Q000002:abnormalities; D016366:Open Reading Frames / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C513314:DLG1 protein, human; D000074288:Discs Large Homolog 1 Protein; D007797:Laminin; D008565:Membrane Proteins; C089141:laminin gamma 1