Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.

[neonatal adrenoleukodystrophy]

We , as the only diagnostic center for peroxisome biogenesis disorders (PBD ) in Japan , identified a total of 31 Japanese patients with PBD during the last 20 years . They were 27 patients with Zellweger syndrome (ZS ), including two sib cases , three with neonatal adrenoleukodystrophy (NALD ) and one with rhizomelic type chondrodysplasia punctata (RCDP ). No patient with infantile Refsum disease has been detected . These patients were genetically subdivided into complementation group A (five ZS and one NALD ), B (11 ZS ), C (four ZS ), E (five ZS and two NALD ), F (two ZS ), and R (one RCDP ). They were subjected to mutation analysis of PEX 1 , PEX 2 , PEX 6 , PEX 7 , and PEX 10 . All the 11 ZS patients with group-B PBD had a common mutation , i .e ., a homozygous 2 -base-pair deletion in PEX 10 . To determine whether this highly frequent mutation is due to a founder effect , we analyzed single nucleotide polymorphisms within PEX 10 among patients and Japanese controls . The mutation apparently arose once on an ancestral chromosome in the Japanese population . Based on the value of 24 PBD patients identified during the last 10 years , we estimated the prevalence of PBD in Japan to be approximately one in 500 ,000 births .

Diseases
Validation

Diseases presenting "common mutation" symptom

achondroplasia

alexander disease

classical phenylketonuria

cystinuria

dystrophic epidermolysis bullosa

familial mediterranean fever

krabbe disease

neonatal adrenoleukodystrophy

pendred syndrome

primary hyperoxaluria type 1

zellweger syndrome

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