Mental Retardation, X-linked (SOX3)
| Dred_ID | RD00026 |
| OMIM ID | 300123 |
| Disease name | Mental Retardation, X-linked |
| Alternative names | Mental retardation, X-linked, with isolated growth hormone deficiency |
| Category | Genetic diseases, Mental diseases, Neuronal diseases, Endocrine diseases, Rare diseases |
| Phenotype | OMIM: Hamel et al. reported a family in which males in 3 generations had varying degrees of mental retardation, isolated growth hormone deficiency, and infantile behavior but without other consistent phenotypic abnormalities. The pedigree was consistent with X-linked inheritance. The male patients continued to grow until well into their twenties and reached a height ranging from 135 to 159 cm [PubMed: 8826446]. |
| Miscellaneouse | N/A |
| Prevalence | Prevalence: <1/1000000 (Worldwide) [source: MalaCards] |
| Inheritance | X-linked recessive |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | SOX3 |
| Alias symbols | PHP; GHDX; MRGH; PHPX; SOXB |
| Gene name | SRY-box 3 |
| Gene map locus | Xq27.1; chrX:140,502,985-140,505,069(-) |
| Ensembl Gene ID | ENSG00000134595 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008] |
| Repeat unit | GCN |
| Normal repeat copies | 11 |
| Pathogenic repeat copies | ≥15 |
| Gene | SOX3 |
| Repeat location | CDS |
| Chromosome locus | chrX:140504314-140504361 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | Protein |
| Possible toxicity | The expansion was associated with decreased SOX3 activity and impaired nuclear localization of the mutant protein |
| Pathway annotation | Reactome, KEGG |
| PMID | 12428212 |
| Authors | Laumonnier F, Ronce N, Briault S |
| Title | Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency |
| Journal | Am. J. Hum. Genet. |
| Year | 2002 |