Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis
复制标题
复合杂合基因型与长期幼年神经元蜡质脂褐质沉着症相关
作者：
MD K. E. Wisniewski;MD N. Zhong;PhD W. Kaczmarski;MSc A. Kaczmarski;MD E. Kida;MD W. T. Brown;MD K. 0. Schwarz;PhD A. M. Lazzarini;MD A. J. Rubin;BS E. S. Stenroos;MD W. G. Johnson;MD T. M. Wisniewski;K. Wisniewski;WT Brown;Kobert S. Schwartz;A. Lazzarini;AJ Rubin
我们提出了一项临床病理研究和第一个分子遗传分析，一个家庭的2个兄弟姐妹受到一种罕见的，长期形式的青少年神经性神经样脂褐质病（JNCL）的影响。分子遗传学研究表明，这两个兄弟姐妹除了在1.02‐kb CLN3缺失（JNCL中常见的突变）上为杂合外，在非1.02‐kb缺失染色体上CLN3 cDNA序列的1020核苷酸处也有G - to - a错义突变。这个点突变导致CLN3蛋白295位的谷氨酸被赖氨酸取代。因此，延长型JNCL中CLN3蛋白残基295的单点突变可能是这种形式的表型的基础，这与经典JNCL不同。
We present a clinicopathological study and the first molecular genetic analysis of a family with 2 siblings affected by a rare, protracted form of juvenile neuronal ceroid lipofuscinosis (JNCL). Molecular genetic studies showed that both siblings, in addition to being heterozygous for the 1.02‐kb CLN3 deletion, a common mutation in JNCL, also had a G‐to‐A missense mutation at nucleotide 1,020 of the CLN3 cDNA sequence on the non‐1.02‐kb deletion chromosomes. This point mutation resulted in a substitution of glutamic acid by lysine at position 295 of the CLN3 protien. Thus, a single point mutation at residue 295 of the CLN3 protien in protracted JNCL may underlie the phenotype in this form, which differs from that in classic JNCL.
DOI：
10.1002/ajmg.1320420420
发表时间：
1992-02
期刊：
American journal of medical genetics
影响因子：
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作者：
K. Wisniewski;E. Kida;O. Patxot;Fred Connell
通讯作者：
K. Wisniewski;E. Kida;O. Patxot;Fred Connell