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Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.

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 mother had phenylketonuria (PKU) and the children maternal PKU. This suggests that the R12S change is not the primary cause of short stature, microcephaly, and mental retardation in this family. The relationship between CDP and PKU, both of which can cause short statue and mental retardation, is discussed.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

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

doi

10.1006/mgme.1999.2935

subject

Has Abstract

pub_date

1999-12-01 00:00:00

pages

503-6

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096719299929359

journal_volume

68

pub_type

杂志文章

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