Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.

doi:10.1136/jmg.35.12.1004

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Article

Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.

Journal of medical genetics - 1 Dec 1998

Sheffield L J, Osborn A H, Hutchison W M, Sillence D O, Forrest S M, White S J, Dahl H H

Abstract excerpt

Sixteen males and two females with symmetrical (mild) type of chondrodysplasia punctata were tested for mutations in the X chromosome located arylsulphatase D and E genes. We identified one nonsense and two missense mutations in the arylsulphatase E gene in three males. No mutations were detected...

Topics

Amino Acid Sequence
Arylsulfatases
Child, Preschool
Chondrodysplasia Punctata
Female
Humans
Infant
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Genetic

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