First case of L1CAM gene mutation identified in MASA syndrome in Asia
この論文をさがす
抄録
ABSTRACT 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.
収録刊行物
-
- 日本先天異常学会会報
-
日本先天異常学会会報 45 (2), 67-69, 2005
日本先天異常学会
- Tweet
詳細情報 詳細情報について
-
- CRID
- 1390288933640424064
-
- NII論文ID
- 10018085711
-
- NII書誌ID
- AN10066760
-
- ISSN
- 24331503
- 17414520
- 00372285
- 09143505
-
- 本文言語コード
- en
-
- データソース種別
-
- JaLC
- Crossref
- CiNii Articles
-
- 抄録ライセンスフラグ
- 使用不可