Description:
CHROMOSOME 2Q37 DELETION SYNDROME
HISTONE DEACETYLASE 4; HDAC4
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
HDAC4 |
| Chromosomal Location |
2q37.2 |
| Allelic Variant 1 |
605314.0002; BRACHYDACTYLY-MENTAL RETARDATION SYNDROME |
| Identified Mutation |
65-BP DEL, NT490+56; In a 16-year-old Caucasian girl with brachydactyly-mental retardation syndrome (BDMR; 600430), Williams et al. (Am J Hum Genet 87:219-28, 2010) identified a heterozygous de novo 65-bp deletion (490+56_121del65) in intron 5 of the HDAC4 gene, which was predicted to alter the splicing of exons 5 and 6. She had dysmorphic features, brachydactyly type E, psychomotor retardation, and severe behavioral abnormalities. |
| Remarks |
Clinically affected; mental retardation; behavioral problems (agression and self-injurious behavior like skin picking); obesity; mild type E brachydactyly; developmental delay; motor delay; language impairment; sleeping difficulties; decreased sensitivity to pain; short stature; broad face; upslanting eyes; broad, not upturned nose; small chin; narrow palpebral fissures; constipation; hypermobility; bitemporal narrowing; dental anomalies; donor subject is heterozygous for a de novo 65 bp deletion in intron 5 of the HDAC4 gene (490+56_121del65) predicted to alter the splicing of exons 5 and 6 |
| Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH, Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems American journal of human genetics87:219-28 2010 |
| PubMed ID: 20691407 |
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