Pai G S, Morgan S, Whetsell C
Department of Pediatrics, Medical University of South Carolina, Charleston.
Am J Med Genet. 1989 Jan;32(1):63-6. doi: 10.1002/ajmg.1320320114.
Most patients with dyskeratosis congenita [DC or Zinsser-Cole-Engman syndrome] are males hemizygous for an X-linked recessive mutation. However, one or more autosomal form(s) of DC may exist. We have studied a 6-year-old black girl with the characteristic triad of nail dystrophy, cutaneous and mucosal pigmentary changes, and bone marrow failure. Severe microcephaly, mental retardation, cerebellar hypoplasia, and purple discoloration of the tongue were other manifestations not usually seen in DC. Comparison of our patient's phenotype with that of 5 other sporadic and 10 familial cases of DC in females showed that the autosomal and X-linked phenotypes are not distinguishable in the absence of a suggestive pedigree pattern. Additional cases of DC need to be studied to better elucidate the apparent causal heterogeneity in this syndrome.
大多数先天性角化不良患者[DC或津瑟-科尔-恩格曼综合征]是因X连锁隐性突变而半合子的男性。然而，可能存在一种或多种常染色体形式的DC。我们研究了一名6岁黑人女孩，她具有指甲营养不良、皮肤和粘膜色素沉着变化以及骨髓衰竭这一特征性三联征。严重小头畸形、智力迟钝、小脑发育不全和舌头紫色变色是DC中通常未见到的其他表现。将我们患者的表型与其他5例散发性和10例女性家族性DC病例的表型进行比较，结果表明，在没有提示性家系模式的情况下，常染色体和X连锁表型无法区分。需要研究更多DC病例，以更好地阐明该综合征中明显的病因异质性。
