A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

doi:10.1086/339766

Article

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

American journal of human genetics - 1 Apr 2002

Raas-Rothschild Annick, Wanders Ronald J A, Mooijer Petra A W, Gootjes Jeannette, Waterham Hans R, Gutman Alisa, Suzuki Yasuyuki, Shimozawa Nobuyuki, Kondo Naomi, Eshel Gideon, Espeel Marc, Roels Frank, Korman Stanley H

Abstract excerpt

Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, presented with sensorineural deafness, RP, dysmorphism, developmental delay, hepatomegaly, and...

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A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

Abstract excerpt

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