XXXX mutated in a Chinese intellectually challenged family.

@entity1 @entity1032 @entity90 @entity66 @entity3769 @entity72608 @entity72609
OBJECTIVE: @entity1032 is characterized by lower intelligence compared to the average intelligence of @entity1 the same age. These @entity1 have low adaptive capacity acquired by society. The genetic factors of causing @entity90 include @entity66 , chromosome structural aberration, and chromosome number aberration and so on. We explored the cause of a Chinese family suffering from @entity1032 . METHODS: We used karyotyping technology to determine the karyotype of the proband, and we used FISH to verify the result of the karyotyping. We used whole-exome sequencing to identify the disease-causing gene and used Sanger sequencing to verify the result of whole-exome sequencing to assess the family's gene expression. RESULTS: The G-banding of the karyotype revealed that the @entity1 's karyotype is 46, XY. FISH revealed that the @entity1 does not have a @entity3769 . The karyotype of the proband is normal. Using whole-exome sequencing, we identified 108,767 variants in the exome gene of the @entity1 , including 101,787 SNPs and 6980 InDels. Combining clinical information and bioinformatics analysis, including databases filtering and SIFT analysis, we found @entity72608 in X chromosome was candidate @entity90 disease-causing gene. PCR and Sanger sequencing results were consistent with whole-exome sequencing. @entity72608 ( @entity72609 ) mutation was present in the genome of the proband and his mother is a carrier, while his father, sister, and brother do not carry this mutation. CONCLUSION: According to clinical information, whole-exome sequencing results and Sanger verification results, @entity72608 ( @entity72609 ) mutation may be disease-causing gene of the @entity90 @entity1 . The relation between @entity72608 mutation and @entity90 clinical characteristic is needed to be illuminated with participation of more @entity90 @entity1 .
