The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

ABSTRACT:

Background

Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, skeletal and gastroenteric system, typical dysmorphic facial features, and variable degrees of developmental delay and intellectual disability (ID). SLOS has a broad phenotypic spectrum, ranging from multiple congenital malformation syndrome, to mild developmental delay and minor malformations. A large number of mutations have been described in the DHCR7 gene, with few common mutations accounting for the majority of mutated alleles found in patients and a large number of very rare or even private variants. Due to the wide v

SUBMITTER: Tucci A 

PROVIDER: S-EPMC4788854 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature