NA25456
DNA from Fibroblast
Description:
RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| 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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Ethnicity
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Polish/Jewish
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Country of Origin
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ISRAEL
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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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Clinical summary/Case history
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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 |
7.52 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
; RETT SYNDROME |
| Identified Mutation |
c.62+1delGT |
| Remarks |
Clinically affected; onset of symptoms at 18 months of age; diagnosed by Rett Syndrome specialist and pediatrician at 2 years and 7 months of age; fatigue; lack of stamina to stand for long periods of time; pronounced hand dyspraxia and stereotypies (hand wringing, washing, and mouthing); loss of language skills; developmental disturbance with relatively severe mental retardation; EEG is moderately abnormal: ictal events with concomitant theta bursts in the posterior head regions, interictal paracentral epileptiform discharges and posterior background abnormality; good eye contact and normal gait suggesting a milder phenotype; normal biogenic amines (metabolites), folates, neurotransmitters, and pterins in cerebrospinal fluid (CSF); blood test showed a significant decrease of mRNA levels of the two isoforms MECP2A and MECP2B; automated fluorescent dye-terminator sequencing shows the subject has a de novo mutation, c.62+1delGT, at the intron 1 splice site of the MECP2 gene; X chromosome inactivation (XCI) studies on a leukocyte derived DNA sample demonstrated a borderline skewing with preferential inactivation of the paternal allele (68%/32%); a slight insignificant tendency was observed towards overexpression of the maternal chromosome in comparison to the paternal chromosome; uses communication/learning device; treatment and management include physical, occupational, and speech therapies; medications include valproate and clonazepam; subject is referred to by the mutation in the publication by Amir RE et al J Med Genet 2005 (PMID 15689438) and as patient H in the publication by Abuhatzira et al. Hum Genet 2005 (PMID 16133181); lymphoblast is GM25455. |
| Abuhatzira L, Makedonski K, Galil YP, Gak E, Ben Zeev B, Razin A, Shemer R, Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis Human genetics118:91-8 2005 |
| PubMed ID: 16133181 |
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| Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB, Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome Journal of medical genetics42:e15 2005 |
| PubMed ID: 15689438 |
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