Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.

[zellweger syndrome]

We identified the first patient with infantile Refsum disease (IRD ), a milder phenotype of peroxisome biogenesis disorder (PBD ) caused by a mutated PEX 3 , and investigated the clinical , molecular and cellular characterization in this patient . The patient presented psychomotor regression , late-onset leukodystrophy , peripheral neuropathy , hearing impairment , a renal cyst , and renal hypertension and survived until the age of 36 . Furthermore , fibroblasts from the patient indicated a mosaic pattern of catalase -positive particles (peroxisomes ) and numerous peroxisomal membrane structures . Molecular analysis was homozygous for the D 347 Y mutation and reduced gene expression of PEX 3 which encodes a peroxisomal membrane protein , pex 3 p , involved in peroxisome assembly at the early stage of peroxisomal membrane vesicle formation , therefore , patients with a mutated PEX 3 gene have been reported to have only a severe phenotype of Zellweger syndrome and no or less peroxisomal remnant membrane structure . This is not only a newly identified milder PBD caused by a mutated PEX 3 gene but also the first report of a Japanese patient with IRD who had not been diagnosed until over 30 years of age , which suggests there must be more variant PBD in patients with degenerative neurologic disorder , and to bring them to light is necessary .

Diseases
Validation

Diseases presenting "hearing impairment" symptom

22q11.2 deletion syndrome

achondroplasia

benign recurrent intrahepatic cholestasis

canavan disease

congenital diaphragmatic hernia

dentinogenesis imperfecta

hirschsprung disease

kabuki syndrome

kallmann syndrome

monosomy 21

oligodontia

pendred syndrome

zellweger syndrome

This symptom has already been validated