SEGREGATION OF MUTATIONS IN ARYLSULFATASE-E AND CORRELATION WITH THE CLINICAL PRESENTATION OF CHONDRODYSPLASIA PUNCTATA

Sixteen males and two females with symmetrical (mild) type of chondrod ysplasia punctata were tested for mutations in the X chromosome locate d arylsulphatase D and E genes. We identified one nonsense and two mis sense mutations in the arylsulphatase E gene in three males. No mutati ons were detected in the arylsulphatase D gene. Family studies showed segregation of the mutant genes establishing X linked inheritance for these families. Asymptomatic females and males were found in these stu dies. The clinical presentation varies not only between unrelated affe cted males, but also between affected males within the same family. We also conclude that clinical diagnosis of chondrodysplasia punctata in adults can be difficult. Finally, our results indicate that brachytel ephalangy is not necessarily a feature of X linked symmetrical chondro dysplasia punctata.