Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome
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DOI：
10.1086/522014
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发表时间：
2007-10-01
影响因子：
9.8
通讯作者：
Naritomi, Kenji
中科院分区：
文献类型：
--
作者：
Kaname, Tadashi;Yanagi, Kumiko;Naritomi, Kenji
C综合征的特征是三角头畸形和相关的异常，如异常的面容、精神发育迟滞、多余的皮肤、关节和肢体异常以及内脏异常。在一个携带平衡染色体易位t（3; 18）（q13.13; q12.1）的C综合征患者中，我们发现免疫球蛋白超家族成员CD 96的TACTILE基因在3q13.3断点处被破坏。在9例核型正常的C或C样综合征患者的突变分析中，我们在1例C样综合征患者的CD 96基因第6外显子中发现了一个错义突变（839 C-> T，T280 M）。在420名未受影响的日本人中未发现错义突变。CD 96蛋白突变的细胞（T280 M）在体外失去粘附和生长活性。这些发现表明，CD 96突变可能通过干扰细胞粘附和生长而引起C综合征的一种形式。
The C syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. In an individual with the C syndrome who harbors a balanced chromosomal translocation, t(3; 18)(q13.13; q12.1), we discovered that the TACTILE gene for CD96, a member of the immunoglobulin superfamily, was disrupted at the 3q13.3 breakpoint. In mutation analysis of nine karyotypically normal patients given diagnoses of the C or C-like syndrome, we identified a missense mutation (839C -> T, T280M) in exon 6 of the CD96 gene in one patient with the C-like syndrome. The missense mutation was not found among 420 unaffected Japanese individuals. Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro. These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth.