Otto L R, Boriack R L, Marsh D J, Kum J B, Eng C, Burlina A B, Bennett M J
Department of Pathology, Children's Medical Center of Dallas, Texas 75235, USA.
Am J Med Genet. 1999 Mar 5;83(1):3-5. doi: 10.1002/(sici)1096-8628(19990305)83:1<3::aid-ajmg2>3.0.co;2-k.
In order to test the hypothesis that long-chain L 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome (BRRS), we studied the enzyme activity in cultured skin fibroblasts from three generations of a family with a clear dominant inheritance of BRRS. Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family. No PTEN mutations were identified in the original patient with BRRS and LCHAD deficiency. These data suggest that the previously reported case of LCHAD and BRRS either represents the coincidental concurrence of two rare genetic events or that a gene other than PTEN is related to LCHAD and BRRS.
为了验证长链L-3-羟酰基辅酶A脱氢酶（LCHAD）缺乏与班纳扬-莱利-鲁瓦尔卡巴综合征（BRRS）中观察到的脂质肌病和肌肉肉碱缺乏相关这一假说，我们研究了一个具有明显BRRS显性遗传的三代家系培养的皮肤成纤维细胞中的酶活性。该家系中种系PTEN错义突变P246L与BRRS共分离，而酶活性正常。在最初患有BRRS和LCHAD缺乏的患者中未发现PTEN突变。这些数据表明，先前报道的LCHAD和BRRS病例要么代表两种罕见遗传事件的巧合并发，要么表明除PTEN之外的某个基因与LCHAD和BRRS相关。
