Expanding the phenotypic spectrum of L1CAM-associated disease
Expanding the phenotypic spectrum of L1CAM-associated disease
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DOI：
10.1111/j.1399-0004.2006.00607.x
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发表时间：
2006-05-01
影响因子：
3.5
通讯作者：
Schwartz, CE
中科院分区：
文献类型：
--
作者：
Basel-Vanagaite, L;Straussberg, R;Schwartz, CE
L1 CAM基因突变导致不同严重程度的神经系统异常，包括先天性脑积水、胼胝体发育不全、痉挛性截瘫、双侧拇指内收、失语和智力迟钝。家族间和家族内变异性是L1 CAM谱的一个众所周知的特征，并且一些患者具有L1 CAM突变和先天性巨结肠症（HSCR）的组合。我们报告两个兄弟姐妹与错义突变外显子7（p.P240L）的L1 CAM基因。在其中一个兄弟姐妹中，存在先天性桡骨头脱位和HSCR。两名患者均无脑积水、拇指内收或言语缺失，但均存在胼胝体发育不全。我们建议，L1 CAM突变检测应考虑在男性患者的阳性家族史与X-连锁遗传兼容，无论是遗传不全的CC和HSCR的组合或遗传不全的CC和肢体异常，包括异常以外的拇指内收。
Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation. Inter- and intrafamilial variability is a well-known feature of the L1CAM spectrum, and several patients have a combination of L1CAM mutations and Hirschsprung's disease (HSCR). We report on two siblings with a missense mutation in exon 7 (p.P240L) of the L1CAM gene. In one of the siblings, congenital dislocation of the radial heads and HSCR were present. Neither patient had hydrocephalus, adducted thumbs, or absent speech, but both had a hypoplastic corpus callosum. We suggest that L1CAM mutation testing should be considered in male patients with a positive family history compatible with X-linked inheritance and either the combination of agenesis of the CC and HSCR or the combination of agenesis of the CC and limb abnormalities, including abnormalities other than adducted thumbs.