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Lopes–Maciel–Rodan syndrome is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor delay, absent speech, motor stereotypies, and bruxism. In the first registered Russian case, whole-exome sequencing identified two novel compound heterozygous variants in HTT, including c.8440C>A (p.Leu2814Met), each confirmed by Sanger sequencing and inherited from unaffected heterozygous parents (PMID:36293294). This single proband remains the only reported LOMARS case, with no additional affected relatives or functional studies available. The lack of in vitro or in vivo assays evaluating these variants in the context of LOMARS limits mechanistic insight. Current evidence supports a Limited level of genetic and experimental validation for HTT in LOMARS pathogenesis.
Gene–Disease AssociationLimitedSingle compound heterozygous case with parental segregation, no functional data Genetic EvidenceLimitedOne proband with two novel HTT variants segregating in parents Functional EvidenceNo evidenceNo functional or experimental data specific to LOMARS |