NA05167
DNA from Fibroblast
Description:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
PERIPHERAL MYELIN PROTEIN 22; PMP22
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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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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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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| PDL at Freeze |
6.17 |
| Passage Frozen |
5 |
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| Gene |
PMP22 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
601097.0001; CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A |
| Identified Mutation |
DUP (17p); Lupski et al [Cell 66: 219 (1991)] found a DNA duplication as the apparent basis of CMT1A [Charcot-Marie-Tooth Disease, Type 1a (118220)]. The duplication was demonstrated in locus D17S122 (probe VAW409R3). |
| Remarks |
Clinically affected; high arches of feet; difficulty with running as a teenager; marked equinus deformity of the foot with early hammer toes; marked weakness of the foot extensors; mildly reduced sensation to pin and light touch; walks with slight steppage gait; normal strength in bulk in upper extremities; normal strength of psoas, quadriceps, hamstrings, and gastrocnemius muscles; no palpably enlarged nerves noted peripherally; affected father is RB05165; EMG performed at age 28 was "compatible with a rather significant polyneuropathic process of a primary demyelinating type. The findings would be consistent with a clincial suspected diagnosis of Charcot-Marie-Tooth disease."; see GM05168 lymphocyte; donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA; no mutations were found in the MPZ gene; donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383) |
| Dang X, Walton EK, Zablocka B, Baloh RH, Shy ME, Dorn GW, Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation Cells11: 2022 |
| PubMed ID: 35326504 |
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| Serfecz J, Bazick H, Al Salihi MO, Turner P, Fields C, Cruz P, Renne R, Notterpek L, Downregulation of the human peripheral myelin protein 22 gene by miR-29a in cellular models of Charcot-Marie-Tooth disease Gene therapy11: 2019 |
| PubMed ID: 31455873 |
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| Zhou Y, Borchelt D, Bauson JC, Fazio S, Miles JR, Tavori H, Notterpek L, Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22 Glia11: 2019 |
| PubMed ID: 32511821 |
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| Mukherjee-Clavin B, Mi R, Kern B, Choi IY, Lim H, Oh Y, Lannon B, Kim KJ, Bell S, Hur JK, Hwang W, Che YH, Habib O, Baloh RH, Eggan K, Brandacher G, Hoke A, Studer L, Kim YJ, Lee G, Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder Nature biomedical engineering3:571-582 2017 |
| PubMed ID: 30962586 |
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