PHENOTYPE OF PATIENTS WITH PEROXISOMAL DISORDERS SUBDIVIDED INTO 16 COMPLEMENTATION GROUPS
PHENOTYPE OF PATIENTS WITH PEROXISOMAL DISORDERS SUBDIVIDED INTO 16 COMPLEMENTATION GROUPS
复制标题
DOI：
10.1016/s0022-3476(95)70250-4
复制
发表时间：
1995-07-01
影响因子：
5.1
通讯作者：
MOSER, HW
中科院分区：
文献类型：
--
作者：
MOSER, AB;RASMUSSEN, M;MOSER, HW
目的：为了使用互补分析技术来帮助定义基因型和分类具有与过氧化物酶体组装障碍一致的临床表现的患者，即Zellweger综合征（ZS）、新生儿肾上腺脑白质营养不良（NALD）、婴儿Refsum病（IRD）和点状肢根软骨发育不良（RCDP）。对173例有这些疾病临床表现的患者的临床表现、过氧化物酶体功能和互补组进行了检查。在37例患者（21%），过氧化物酶体组装是完整的，并证明了参与脂肪酸或缩醛磷脂生物合成的β-氧化的五种过氧化物酶体酶之一的孤立缺陷。在93例（54%）过氧化物酶体组装受损和三种表型（ZS，NALD或IRD）之一中确定了10个互补组，互补组与表型之间无相关性。43例患者（25%）有与RCDP表型相关的过氧化物酶体组装受损，属于单一互补组。在173例患者中，有10例有异常轻微的临床表现，包括存活到第五个十年或局限于先天性白内障的缺陷。至少有16个互补组，因此基因型，与过氧化物酶体组装障碍的临床表现。表型范围广，部分患者轻度受累。
Objective: To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP).Study design: Clinical findings, peroxisomal function, and complementation groups were examined in 173 patients with the clinical manifestations of these disorders.Results: In 37 patients (21%), peroxisome assembly was intact and isolated deficiencies of one of five peroxisomal enzymes involved in the beta-oxidation of fatty acids or plasmalogen biosynthesis were demonstrated. Ten complementation groups were identified among 93 patients (54%) with impaired peroxisome assembly and one of three phenotypes (ZS, NALD, or IRD) without correlation between complementation group and phenotype. Forty-three patients (25%) had impaired peroxisome assembly associated with the RCDP phenotype and belonged to a single complementation group, Of the 173 patients, 10 had unusually mild clinical manifestations, including survival to the fifth decade or deficits limited to congenital cataracts.Conclusions: At least 16 complementation groups, and hence genotypes, are associated with clinical manifestations of disorders of peroxisome assembly. The range of phenotype is wide, and some patients have mild involvement.