WebFunction. The protein encoded by this gene contains a bromodomain and several WD repeats.It is thought to have a chromatin-modifying function, and may thus play a role in transcription.. Clinical significance. Mutations in this gene can cause mental retardation or permanent paralysis X-linked type 93, which is also referred to as mental retardation X … WebDec 5, 2024 · BRWD3 maps to Xq21.1 and encodes for a bromodomain and WD-repeat domain-containing protein . Patients with pathologic BRWD3 mutations present with ID, motor delay, speech difficulty, tall stature, obesity, facial dysmorphia, macrocephaly, and behavioral disturbances, as well as many other phenotypes .
Human Disease Genes - Parents
WebMutations in this gene can cause mental retardation or permanent paralysis X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene … WebOct 1, 2009 · In a family in which an uncle and nephew had intellectual developmental disorder-93 with macrocephaly (XLID93; 300659), Field et al. (2007) described a splice … toy shop thrapston
Genomic analysis identifies candidate pathogenic variants in
WebA BRWD3 frameshift mutation, c.946_947insA, which leads to a predicted truncated protein, p.R316Kfs*21, was identified in both affected males from this family. A third family was reported in this paper, though this family was found to have a missense BRWD3 variant, c.4786A→G (p.K1596E). The affected males in this family were said to have a ... WebThis section shows a general overview of the selected mutation. It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. You can see more information on our help pages . Genomic Mutation ID. COSV64748881. Legacy Identifier. WebThis website provides information on patients with mutations in the BRWD3 gene, including clinical data, molecular data, management and research options.. The syndrome caused … toy shop traduzione