两名成年发病型红细胞生成性原卟啉症姐妹中发现的新突变。
New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.
机构信息
Department of Dermatology, The James Cook University Hospital, Middlesbrough, UK.
出版信息
Clin Exp Dermatol. 2013 Aug;38(6):601-5. doi: 10.1111/ced.12076. Epub 2013 Apr 20.
BACKGROUND
Erythropoietic protoporphyria (EPP; OMIM #177000) is a rare disease that usually presents in infancy or early childhood. The uncommon adult-onset EPP is often associated with acquired somatic mutations of the FECH gene, secondary to blood dyscracias.
METHODS
We investigated two sisters with adult-onset EPP.
RESULTS
We found a novel germline mutation in the FECH gene, in trans with the common hypomorphic IVS3-48C allele.
CONCLUSIONS
The adult presentation and identical genotypes of the two sisters suggests that the late development of the condition is to an extent a function of the mutation. The exact mechanism for this delayed penetrance is not clear, although these atypical cases raise the possibility of other genetic or nongenetic disease-modifying factors.
背景
红细胞生成性原卟啉症（EPP；OMIM#177000）是一种罕见疾病，通常在婴儿期或幼儿期发病。不常见的成人发病 EPP 常与 FECH 基因突变相关，继发于血液疾病。
方法
我们研究了两位患有成人发病 EPP 的姐妹。
结果
我们发现了 FECH 基因中的一个新的胚系突变，与常见的低功能 IVS3-48C 等位基因反式存在。
结论
两位姐妹均为成人发病且基因型相同，提示疾病的迟发在一定程度上是突变的结果。这种延迟外显的具体机制尚不清楚，尽管这些非典型病例提示可能存在其他遗传或非遗传的疾病修饰因素。
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