Chromosome 6p22-p24 deletion JARID2 gene mutation.
Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). The loss of the JARID2 gene located at 6p22.3 was considered to be the most reliable cause of ID, but this proposal had to be confirmed. The authors examined 16 patients, including 8 patients with deletions of 6p involving 6p22.3 and 8 patients with mutations of the JARID2 gene. The comparison of these groups showed that ID, developmental delay and autistic features occurred in both groups with the same frequency. It shows that the JARID2 gene is the main factor causing neurodevelopmental problems in these patients. Dysmorphic features and anomalies of the skin occurred in patients with deletions more often than in patients with mutations. Most likely these additional manifestations were caused by deletions of genes surrounding JARID2.
Verberne E.A. et al. “JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome”. “Genetics in Medicine” 2020, online ahead of print.
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