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 |
| Class |
Disorders of the Nervous System |
| 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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Family Member
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1
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0011; RETT SYNDROME |
| Identified Mutation |
ARG294TER; DeBona et al. [Europ. J. Hum. Genet. 8: 325-330 (2000)] identified an 880C-T transition in the MECP2 gene, leading to an arg294-to-ter (R294X) nonsense mutation in four unrelated patients with Rett Syndrome, thus indicating that this represents a hot spot. |
| Remarks |
Clinically affected; donor subject is heterozygous for an C>T transition at nucleotide 880 in the MECP2 (880C>T) gene resulting in an arg294-to-ter [ARG294TER (R294X)] nonsense mutation; LCL expressing the mutant allele did not affect the imprinting status of DLX5, which is a maternally expressed gene. |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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| Carvalho CM, Camargos W, Pena SD, Multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation Clinical chemistry52:539-40 2006 |
| PubMed ID: 16510438 |
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| Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T, Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet37(1):31-40 2005 |
| PubMed ID: 15608638 |
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| Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY, Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol47:670-9 2000 |
| PubMed ID: 10805343 |
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