Large scale NGS studies have highlighted the role of AKAP6 gene as a novel candidate gene for intellectual disability in Saudi Arabian patients. Heterozygous mutations in AKAP6 gene were identified in patients with intellectual disability.
Mental and behavioural disorders
Mental retardation
Autosomal dominant
14q12
Large scale NGS studies have highlighted the role of AKAP6 gene as a novel candidate gene for intellectual disability in Saudi Arabian patients. Heterozygous mutations in AKAP6 gene were identified in patients with intellectual disability.
| Subject ID | Country | Sex | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|
| 604691.1 | Saudi Arabia | Female | Yes | Intellectual disability; Precocious pube... Intellectual disability; Precocious puberty  | NM_004274.5:c.1874A>T | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |
| 604691.2 | Saudi Arabia | Unknown | Intellectual disability Intellectual disability | NM_004274.5:c.1573_1574del | Heterozygous | De novo | Monies et al. 2017 |