Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia.

ABSTRACT: Lopes−Maciel−Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) was performed to achieve a definitive molecular diagnosis of the disorder. All NGS-identified variants underwent the Sanger confirmation. In addition, a literature review on genetic variations in the HTT gene was conducted. The paper reports a case of LOMARS in a pediatric patient in Russia. A preterm girl of non-consanguineous parents demonstrated severe psychomotor developmental delays in her first 12 months. By the age of 6 years, she failed to develop speech but was able to understand everyday phrases and perfo

SUBMITTER: Koshevaya YS 

PROVIDER: S-EPMC9604141 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature