First case of L1 CAM gene mutation identified in MASA syndrome in Asia
First case of L1 CAM gene mutation identified in MASA syndrome in Asia
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DOI：
10.1111/j.1741-4520.2005.00067.x
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发表时间：
2005-06-01
影响因子：
1.3
通讯作者：
Yamasaki, Mami
中科院分区：
文献类型：
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作者：
Kanemura, Yonehiro;Takuma, Yuuichi;Yamasaki, Mami
我们在这里报告的第一例L1CAM基因突变的精神发育迟滞，内收拇指，洗牌步态，失语症（MASA）综合征在日本确定。患者为一名10岁男孩，患有轻度智力低下、双侧拇指内收和胼胝体发育不全。他的家族没有MASA综合征病史。L1CAM基因在胞浆区的26号外显子中含有一个无义突变（R1166X）。在L1CAM的胞外区和跨膜区未发现突变。导致胼胝体发育不全和拇指内收的轴突束的异常发育似乎是由L1CAM的胞质结构域的功能障碍引起的。
We report here the first case of an L1CAM gene mutation identified in mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome in Japan. The patient was a 10-year-old boy with mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia. His family had no history of MASA syndrome. The L1CAM gene contained a nonsense mutation (R1166X) in exon 26 in the cytoplasmic domain. No mutation was found in the extracellular and transmembrane domains of L1CAM. The abnormal development of axon tracts resulting in the corpus callosum hypoplasia and adducted thumbs appears to be caused by malfunction of the cytoplasmic domain of L1CAM.