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NA24585 DNA from Fibroblast

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
METHYL-CPG-BINDING DOMAIN PROTEIN 5; MBD5
CHROMOSOME DELETION

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
ISCN 46,XX.arr[hg19] 2q22.3q23.1(148345483-149080197)x1,15q11.1q11.2(20262223-22285757)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; dysmorphic features include: relatively prominent frontal area on head, small nasal bridge, diminutive nose, mild sandal gap in the right lower foot; developmental delay; motor delay; not able to walk independently at 18 months; heterozygous de novo 713 kb deletion in the MBD5 (methyl-CpG binding domain protein 5) gene confirmed by chromosomal microarray, real-time PCR, and FISH; the aberrant region on the long arm of chromosome 2 contains 3 known genes (an isoform of MBD5, ORC4L and ACVR2A); subject receives physical and speech therapy; lymphoblast is GM23711; unaffected mother is GM24586 fibroblast/GM23712 lymphoblast and unaffected father is GM24587 fibroblast/GM23713 lymphoblast.

Characterizations

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PDL at Freeze 5.06
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene MBD5
Chromosomal Location 2q23.1
Allelic Variant 1 heterozygous deletion;
Identified Mutation 713kb DEL at 2q22.3-q23.1; Microdeletion: 713 kb loss of genomic material from the long arm of chromosome 2, at 2q22.3-q23.1. The aberrant region contains 3 known genes, including an isoform of MBD5.

Phenotypic Data

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Remarks Clinically affected; dysmorphic features include: relatively prominent frontal area on head, small nasal bridge, diminutive nose, mild sandal gap in the right lower foot; developmental delay; motor delay; not able to walk independently at 18 months; heterozygous de novo 713 kb deletion in the MBD5 (methyl-CpG binding domain protein 5) gene confirmed by chromosomal microarray, real-time PCR, and FISH; the aberrant region on the long arm of chromosome 2 contains 3 known genes (an isoform of MBD5, ORC4L and ACVR2A); subject receives physical and speech therapy; lymphoblast is GM23711; unaffected mother is GM24586 fibroblast/GM23712 lymphoblast and unaffected father is GM24587 fibroblast/GM23713 lymphoblast.

Publications

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Mullegama SV, Klein SD, Williams SR, Innis JW, Probst FJ, Haldeman-Englert C, Martinez-Agosto JA, Yang Y, Tian Y, Elsea SH, Ezashi T, Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes Scientific reports11:11295 2020
PubMed ID: 34050248
 
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH, Assessment of 2q231 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder American journal of human genetics89:551-63 2011
PubMed ID: 21981781

External Links

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Gene Cards MBD5
NCBI GTR 156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
OMIM 156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
Omim Description MENTAL RETARDATION, DOMINANT
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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