Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0917816 (
mental retardation
)
15,867
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Histone deacetylase 4
(
HDAC4
) serves important roles in multiple human systems, including neurological, cardiac, and skeletal functions. Mutation or deletion of
HDAC4
causes brachydactyly
mental retardation
syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. Cytogenetic testing showed a cryptic balanced translocation in the mother that resulted in a 2q37.1 monosomy and a 10q26.1 trisomy in the son. Gene expression analyses demonstrated 67%
HDAC4
expression in the mother and 23%
HDAC4
expression in the son relative to normal controls, lending evidence to the hypothesis that
HDAC4
modulates severity of this disorder in a dosage-dependent manner.
...
PMID:Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. 2275 18
