Polymorphisms in DLGH1 and LAMC1 in Mayer–Rokitansky–Kuster–Hauser syndrome

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.