Sheffield L J, Osborn A H, Hutchison W M, Sillence D O, Forrest S M, White S J, Dahl H H
The Murdoch Institute for Research into Birth Defects, The Royal Children's Hospital, Melbourne, Victoria, Australia.
J Med Genet. 1998 Dec;35(12):1004-8. doi: 10.1136/jmg.35.12.1004.
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 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 studies. The clinical presentation varies not only between unrelated affected 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 brachytelephalangy is not necessarily a feature of X linked symmetrical chondrodysplasia punctata.
对16名男性和2名患有对称性（轻度）点状软骨发育不良的女性进行了位于X染色体上的芳基硫酸酯酶D和E基因的突变检测。我们在3名男性的芳基硫酸酯酶E基因中鉴定出1个无义突变和2个错义突变。在芳基硫酸酯酶D基因中未检测到突变。家系研究显示突变基因的分离，确立了这些家系的X连锁遗传。在这些研究中发现了无症状的女性和男性。临床表现不仅在无关的患病男性之间有所不同，而且在同一家族内的患病男性之间也有所不同。我们还得出结论，成人点状软骨发育不良的临床诊断可能很困难。最后，我们的结果表明，短指（趾）畸形不一定是X连锁对称性点状软骨发育不良的特征。
