GM17400

GM17400 Fibroblast from Skin, Arm

Description:

PEROXISOME BIOGENESIS DISORDER 7B; PBD7B
RETINITIS PIGMENTOSA 1; RP1
PEROXISOME BIOGENESIS FACTOR 26; PEX26

Affected:

Yes

Sex:

Male

Age:

5 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Lipid Metabolism

Biopsy Source

Arm

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Arm

Race

White

Family Member

Relation to Proband

brother

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; skin biopsy taken from inner forearm; group 8; dolichocephaly; prominent forehead; retinitis pigmentosa; broad nasal bridge; high-arched palate; leukodystrophy; mental retardation; deficient phytanic acid oxidation; amounts of c26:0, c26:1, and the ratios of c24/c22 and c26/c22 are higher than normal; lower than normal c22:6n-3; both plasma and urinary pipecolate levels are significantly higher than normal; deficient peroxisomal plasmalogen synthesis enzymes; higher than normal very long chain fatty acids; affected sister is GM17399

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

PEX26

Chromosomal Location

22q11.21

Allelic Variant 1

; PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

Identified Mutation

c.131T>C (p.Leu44Pro)

Gene

PEX26

Chromosomal Location

22q11.21

Allelic Variant 2

608666.0001; PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

Identified Mutation

ARG98TRP; In a patient with neonatal adrenoleukodystrophy (NALD; 202370), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified a homozygous C-to-T transition at nucleotide 292 of the PEX26 gene, resulting in an arg98-to-trp (R98W) substitution. The mutation rendered PEX26 unstable and less able to participate in PEX6 (601498)-mediated interaction with PEX1 (602136). Transfection of wildtype PEX26 restored peroxisome biogenesis in fibroblasts from this patient. In a patient with infantile Refsum disease (266510), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified compound heterozygosity for 2 mutations in the PEX26 gene: R98W and a 1-bp insertion, 255insT (608666.0007), resulting in a frameshift introducing a distinct 28-amino acid sequence. Functional coexpression studies of the 2 mutations showed temperature-sensitive (30 degrees C) import of catalase and thiolase.

Phenotypic Data

Remarks

Publications

Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y, Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex The Journal of biological chemistry281:1317-23 2005

PubMed ID: 16257970