Description:
RETT SYNDROME; RTT
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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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Race
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White
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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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ISCN
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46,XX.arr 15q11.2(20830361-22681064)x3
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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 |
| |
| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0007; RETT SYNDROME |
| Identified Mutation |
THR158MET; In a sporadic patient with Rett syndrome (312750), Amir et al. [Nature Genet. 23: 185-188 (1999)] identified a C-to-T transition at nucleotide 547 of the MECP2 gene, resulting in a THR158-to-MET (T158M) substitution. |
| Remarks |
Clinically affected; onset of symptoms noticed around 6 months of age; head circumference has not decelerated; normal height and weight for age; feet are slightly smaller in proportion to the rest of the body; normal hand use with occasional repetitive hand motions; regularly speaks using single words or short sentences; walks well independently; occasional seizures; occasional circulation problems; significant EEG abnormalities; MECP2 mutation: T158M; treatments: scoliosis/kyphosis corrected with a brace/surgery; constipation controlled with medication or diet. |
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