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NA23277 DNA from LCL

Description:

CHROMOSOME 2Q37 DELETION SYNDROME
HISTONE DEACETYLASE 4; HDAC4

Affected:

Yes

Sex:

Female

Age:

16 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
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

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
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.

Phenotypic Data

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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

Publications

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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

External Links

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Gene Cards HDAC4
Gene Ontology GO:0000118 histone deacetylase complex
GO:0004407 histone deacetylase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006355 regulation of transcription, DNA-dependent
GO:0006954 inflammatory response
GO:0007049 cell cycle
GO:0007275 development
GO:0007399 neurogenesis
GO:0008134 transcription factor binding
GO:0016564 transcriptional repressor activity
GO:0016568 chromatin modification
GO:0016787 hydrolase activity
GO:0030183 B-cell differentiation
GO:0045843 negative regulation of myogenesis
NCBI Gene Gene ID:626
Gene ID:9759
NCBI GTR 600430 CHROMOSOME 2q37 DELETION SYNDROME
605314 HISTONE DEACETYLASE 4; HDAC4
OMIM 600430 CHROMOSOME 2q37 DELETION SYNDROME
605314 HISTONE DEACETYLASE 4; HDAC4
Omim Description ALBRIGHT HEREDITARY OSTEODYSTROPHY 3; AHO3
  ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME
  BDMR
  BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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