Journal article

Late diagnosis of maternal PKU in a family segregating an arylsulfatse E mutation causing symmetrical chondrodysplasia punctata

HHM Dahl, AH Osborn, WM Hutchison, DR Thorburn, LJ Sheffield

MOLECULAR GENETICS AND METABOLISM | ACADEMIC PRESS INC | Published : 1999

Abstract

Mutations in the arylsulfatase E gene, located on the X chromosome, have been shown to cause chondrodysplasia punctata (CDP). A substitution of arginine with serine at amino acid 12 (R12S) was identified in a patient with typical features of mild symmetrical CDP including mild mental retardation. The proband was institutionalized and was found to have seven full and half siblings all of whom were microcephalic. Six siblings are alive and all are mentally retarded. The mother is borderline retarded. The mother and three daughters are carriers of the R12S change, but do not appear to have CDP. A son and three other daughters do not carry the R12S change. Further studies revealed that the mothe..

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