Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
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DOI：
10.1111/j.1469-8749.2010.03628.x
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发表时间：
2010-07-01
影响因子：
3.8
通讯作者：
Mink, Jonathan W.
中科院分区：
文献类型：
--
作者：
Adams, Heather R.;Beck, Christopher A.;Mink, Jonathan W.
目的本研究的主要目的是研究纯合子（常见致病缺失或复合杂合子）的幼年神经元样脂褐质病（JNCL）个体的基因型和临床表型差异。第二个目的是交叉验证儿童行为检查表（CBCL）和统一巴顿疾病评定量表（UBDRS），这是一种疾病特异性的JNCL评定量表。方法60例JNCL患者（男28例，女32例，平均年龄15 ~ 1月龄，年龄4 ~ 9月龄，年龄范围5 ~ 8 ~ 31月龄）完成UBDRS。结果纯合缺失个体与复合杂合缺失个体异质组的基因型和临床表型无显著差异。CBCL和UBDRS的相关行为项目和量表之间存在显著的相关性（Spearman's rho范围为0.39 [p < 0.05] ~ 0.72 [p < 0.01]）。行为和身体功能评分不相关，支持这两个构念在JNCL中的不同效度。先前关于基因型和临床表型差异的报道在这项研究中没有得到支持，该研究没有发现CLN3缺失的纯合或杂合个体之间的差异。CBCL是一种已经被验证的行为问题测量方法，似乎适用于JNCL，并与UBDRS交叉验证。
AimThe primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for a common disease-causing deletion or compound heterozygous. The secondary aim was to cross-validate the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS), a disease-specific JNCL rating scale.MethodSixty individuals (28 males, 32 females; mean age 15y 1mo, SD 4y 9mo, range 5y 8mo-31y 1mo) with JNCL completed the UBDRS.ResultsNo significant genotype and clinical phenotype differences were identified when comparing individuals homozygous for the deletion with a heterogeneous group of compound heterozygous individuals. There were significant correlations among related behaviour items and scales on the CBCL and UBDRS (Spearman's rho ranging from 0.39 [p < 0.05] to 0.72 [p < 0.01]). Behaviour and physical function ratings were uncorrelated, supporting divergent validity of these two constructs in JNCL.InterpretationPrevious reports of genotype and clinical phenotype differences were unsupported in this investigation, which did not find differences between individuals homozygous or heterozygous for the CLN3 deletion. The CBCL, an already validated measure of behaviour problems, appears valid for use in JNCL and cross-validates well with the UBDRS.