Description:
RETT SYNDROME; RTT
INCONTINENTIA PIGMENTI; IP
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 |
| 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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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 |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
L138X; RETT SYNDROME |
| Identified Mutation |
411delG |
| Remarks |
Clinically affected with incomplete features of Rett syndrome; at birth her right leg had faint red papules that extended from groin to calf; papules were replaced by hyperpigmentation at age 1 month; lesion biopsy at age 3 years revealed prominent spongiosis and cytoid bodies in the dermis together with superficial perivascular infiltrate, prominent pigment incontinence and abundant eosinophils; histopathology was consistent with diagnosis of incontinentia pigmenti; regression of speech occurred at age 2 months; she gradually lost learned hand skills and developed frequent hand-washing movements; autistic features with gaze avoidance and bruxism; hypotonia; donor subject has a 1 bp deletion at nucleotide 411 in exon 3 of the MECP2 gene (411delG) resulting in a premature stop codon [Leu168Ter (L138X)] |
| Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U, Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots American journal of human genetics65:1520-9 1999 |
| PubMed ID: 10577905 |
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