NA23428

NA23428 DNA from LCL

Description:

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
PERIPHERAL MYELIN PROTEIN 22; PMP22

Affected:

Yes

Sex:

Female

Age:

37 YR (At Sampling)

Overview

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Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Congenital Muscle Diseases

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

AUSTRIAN/IRISH

Family History

N

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at age 2 months; diagnosis at age 2 years; severe muscle deterioration; sleep apnea; scoliosis; neuropathic pain in feet; heterozygous for an A>G transition in exon 1 of the PMP22 gene resulting in the substitution of arginine for histidine at codon 12 [His12Arg (H12R)]; normal Charcot-Marie Tooth type 1A result on FISH testing: nuc ish 17p12(PMP22x2); negative for Myelin Protein Zero mutations by DGGE and sequencing; medications include Panadel Osteo; surgeries include spinal rod fusion; uses wheelchair.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

PMP22

Chromosomal Location

17p11.2

Allelic Variant 1

H12R; DEJERINE-SOTTAS SYNDROME

Identified Mutation

HIS12ARG

Phenotypic Data

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Remarks

Clinically affected; symptom onset at age 2 months; diagnosis at age 2 years; severe muscle deterioration; sleep apnea; scoliosis; neuropathic pain in feet; heterozygous for an A>G transition in exon 1 of the PMP22 gene resulting in the substitution of arginine for histidine at codon 12 [His12Arg (H12R)]; normal Charcot-Marie Tooth type 1A result on FISH testing: nuc ish 17p12(PMP22x2); negative for Myelin Protein Zero mutations by DGGE and sequencing; medications include Panadel Osteo; surgeries include spinal rod fusion; uses wheelchair.

External Links

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Gene Cards

Gene Ontology

GO:0005624 membrane fraction

GO:0005887 integral to plasma membrane

GO:0007268 synaptic transmission

GO:0007422 peripheral nervous system development

GO:0007605 perception of sound

GO:0007638 mechanosensory behavior

GO:0008285 negative regulation of cell proliferation

NCBI Gene

NCBI GTR

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

OMIM

145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

601097 PERIPHERAL MYELIN PROTEIN 22; PMP22

Omim Description

DEJERINE-SOTTAS NEUROPATHY; DSN

DEJERINE-SOTTAS SYNDROME

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN3

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

Pricing

International/Commercial/For-profit:

$281.00USD

U.S. Academic/Non-profit/Government:

$139.00USD