Molecular and neurologic findings of peroxisome biogenesis disorders.
Peroxisomal disorders, an expanding group of genetic disorders in humans, can be grouped into three categories: peroxisome biogenesis disorders, single peroxisomal enzyme deficiencies, and contiguous gene syndrome. At present, 13 complementation groups of peroxisome biogenesis disorders and their responsible genes have been identified, including our newly identified group with a PEX14 defect. We describe neuronal abnormalities related to deficiencies in peroxisomes and the phenotype-genotype relationship in peroxisome biogenesis disorders. We also identified 32 Japanese patients with peroxisome biogenesis disorders, subdivided into six complementation groups. Our institution acts as the only diagnostic center for studies on peroxisomal disorders in Japan.
Shimozawa
Nobuyuki
N
Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan. nshim@cc.gifu-u.ac.jp
Nagase
Tomoko
T
Takemoto
Yasuhiko
Y
Funato
Michinori
M
Kondo
Naomi
N
Suzuki
Yasuyuki
Y
D044466:Asian People / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D018901:Peroxisomal Disorders / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics
D011506:Proteins; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human