STK32B or YANK2 is a serine/threonine protein kinase that contains motif for binding metal ions and nucleotides and the gene for STK32B is highly conserved among various species. STK32B has been associated with isolated cleft lip with or without cleft palate and cleft palate which are among the most common human birth defects of oral cleft cases. Long interspersed nuclear element-1 (LINE-1 or L1) mediated deletion of STK32B gene is observed in patients with Ellis-van Creveld syndrome with borderline intelligence.
Previous work has shown Ellis-van Creveld (EvC) patients with mutations either in both alleles of EVC or in both alleles of EVC2. We now report affected individuals with the two genes inactivated on each allele. In a consanguineous pedigree diagnosed
European journal of human genetics : EJHG, 18(6), 726-732 (2010-01-21)
Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing
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