NA24585
DNA from Fibroblast
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
METHYL-CPG-BINDING DOMAIN PROTEIN 5; MBD5
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family Member
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1
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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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Karyotypic analysis and Case history
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ISCN
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46,XX.arr[hg19] 2q22.3q23.1(148345483-149080197)x1,15q11.1q11.2(20262223-22285757)x1
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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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| PDL at Freeze |
5.06 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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. |
| 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. |
| 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 |
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| 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 |
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