Research conducted in various model organisms showed that MEIS2 is necessary for the correct formation of many tissues and organs during embryogenesis. Among others, MEIS2 participates in the development of the heart, face (including closure of the palate), brain, eye, ear, as well as limbs and extremities. MEIS2 is also critically involved in maintaining the proper function of several of these organ systems after birth [see publications page].
Pathogenic variants in MEIS2 are commonly truncating and rarely missense variants expected to result in loss of function (haploinsufficiency). A number of published variants, including missense variants, are in the functionally important homeodomain of MEIS2.
Most of the published individuals have been identified by exome sequencing but could also be detected by sequencing panels that include the MEIS2 gene.
MEIS2