De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray J M, Poggi F, Liebaers I
Department of Medical Genetics, Vrije Universiteit, Brussels, Belgium.
Pediatr Res. 1994 Dec;36(6):707-12. doi: 10.1203/00006450-199412000-00004.
Pyruvate dehydrogenase (PDH)-E1 alpha deficiency has recently been studied at the molecular-genetic level. The gene is situated on the X chromosome. We report on an unusual mutation in a familial E1 alpha deficiency. In fibroblasts, PDH deficiency was diagnosed in a young infant presenting with Leigh's encephalomyelopathy and in a maternal nephew with episodes of "malaises." In the two affected children as well as their mothers we found a silent mutation in exon 6 of the PDH-E1 alpha and an aberrant splicing of exon 6 in some of the cDNA clones. This case emphasizes the need for both genomic and cDNA analysis in cases where a PDH-E1 alpha deficiency is strongly suspected.
丙酮酸脱氢酶（PDH）-E1α缺乏症最近在分子遗传学水平上得到了研究。该基因位于X染色体上。我们报告了一例家族性E1α缺乏症中的罕见突变。在成纤维细胞中，一名患有 Leigh 脑脊髓病的幼儿以及一名有“不适”发作的母亲侄子被诊断出患有PDH缺乏症。在这两名患病儿童及其母亲中，我们发现PDH-E1α外显子6存在沉默突变，并且在一些cDNA克隆中外显子6存在异常剪接。该病例强调了在强烈怀疑存在PDH-E1α缺乏症的情况下，进行基因组和cDNA分析的必要性。
