PubMed ID | Description |
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24307393 | Authors did whole genome and targeted sequencing in 9 patients with isolated intellectual disability (ID) of variable degrees without any copy number variations using SNP microarray. The 9 patients were selected from an initial cohort of 236 ID patients which had a medical record review and were determined to have isolated ID based on inclusion criteria set by authors. A de novo splice site mutation in trio 2 was identified suggesting that KDM5B may be a possible ID related candidate gene. No functional studies were performed. |
28720891 | Authors used whole exome sequencing in an attempt to identify risk genes or rare variants in a cohort of 19 proband-parent trios from singleton families with autism spectrum disorder from Saudi Arabia. Among the 19 probands, one proband (Patient 19) was found to have a de novo nonsense variant p.Y755X in the KDM5B gene. No functional studies were performed. |
25363768 | Whole exome sequencing of the Simons simplex collection including unaffected sibling and parent in each family was done. Results showed KDM5B as one of the recurrently mutated genes. Figure 2 and supplementary Table 2 showed a total of 4 de novo mutations in KDM5B identified in four ASD probands (2 likely gene disrupting and 2 missense) and 4 occurring in unaffected siblings (2 likely gene disrupting and 2 missense) . None of the 8 individuals appear to be related based on family ID in Table 2. No functional studies or further discussion on KDM5B was done. |
Additional PMID:28263302 identified a single de novo frame shift insertion (predicted to cause a loss of function,LOF) in a patient from an individual with autism spectrum disorder. PMID:25363760 performed whole exome sequencing on 15,480 DNA samples. Authors identified 1 de novo LOF variant and 1 missense variant , 4 inherited LOF variants, 19 inherited missense variants all in ASD patients. A total of 34 case-control cases were identified with KDM5B variants. Case-controls include 10 affected patients ( 1 LOF, 9 missense) and 24 unaffected (7 LOF, 17 missense). Due to the frequency of variants seen in controls a score of 1 has been given at this time.