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| Duan,Yongheng; Lin,Sheng; Xie,Lichun; Zheng,Kaifeng; Chen,Shiguo; Song,Hui; Zeng,Xuchun; Gu,Xueying; Wang,Heyun; Zhang,Linghua; Shao,Hao; Hong,Wenxu; Zhang,Lijie; Duan,Shan. |
| Abstract X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID). The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T), which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1) gene, was found segregating with the ID phenotype, and this... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Intellectual disability; GDI1 gene; Guanosine diphosphate dissociation inhibitor; Whole exome sequencing. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400591 |
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