PubMed ID | Description |
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21841781 | In a study comparing a large cohort of children with ID and/or DD to unaffected adult controls, the incidence of observed losses of PAK2 was 6/15,767 cases vs 0/8,329 controls. These deletions were likely not focal and included surrounding genes. |
PMID 15918153, 20830797: Haploinsufficiency for PAK2 has been hypothesized to contribute to certain clinical manifestations (e.g. autism) of Chromosome 3q29 deletion syndrome (MIM# 609425).
PubMed ID | Description |
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21841781 | In a study comparing a large cohort of children with ID and/or DD to unaffected adult controls, the incidence of observed gains of PAK2 was 7/15,767 cases vs 0/8,329 controls. These duplications were likely not focal and included surrounding genes. |
PAK2 may be linked to features of Chromosome 3q29 Duplication Syndrome (MIM# 611936). However, amongst a cohort of 19 individuals with duplications of 3q29, duplication breakpoints were variable (PMID 18471269) and thus, this syndrome may not always involve PAK2.