| H00561 | |
| H number | H00561 |
| Name | Brachydactyly-mental retardation syndrome; Chromosome 2q37 deletion syndrome |
| Description | Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism spectrum disorder. It has been confirmed that this disease is associated with some deletions of 2q37. Individuals with BDMR and Smith-Magenis syndrome (SMS) have very similar features. Mutation of the BDMR-causative gene HDAC4 results in reduced expression of RAI1, whose haploinsufficiency leads to SMS. |
| Category | Chromosomal abnormality |
| Network | - |
| Gene | HDAC4 [HSA:9759] [KO:K11406] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H1791 Smith-Magenis syndrome. For Albright hereditary osteodystrophy, see H00501. |
| Other DBs | ICD-11: LD44.20 ICD-10: Q93.5 MeSH: C538317 OMIM: 600430 |
| Reference | PMID:20691407 AUTHORS Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH TITLE Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. JOURNAL Am J Hum Genet 87:219-28 (2010) DOI:10.1016/j.ajhg.2010.07.011 PMID:7847374 AUTHORS Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al. TITLE Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. JOURNAL Am J Hum Genet 56:400-7 (1995) |