Before revision: Other examples include: Some cancers 1q21.1 deletion syndrome 5q- syndrome in myelodysplastic syndrome (MDS) 22q11.2 deletion syndrome CHARGE syndrome Cleidocranial dysostosis Ehlers–Danlos syndrome Frontotemporal dementia caused by mutations in progranulin GLUT1 deficiency (DeVivo syndrome) Haploinsufficiency of A20 Holoprosencephaly caused by haploinsufficiency in the Sonic Hedgehog gene Holt–Oram syndrome Marfan syndrome Phelan–McDermid syndrome Polydactyly Dravet Syndrome ZTTK FOXP1 Syndrome NR4A2-related syndrome Methods of detection The most direct method to detect haploinsufficiency is the heterozygous deletion of one allele in a model organism.
After revision: Haploinsufficiency of PRR12Other examples include: Some cancers 1q21.1 deletion syndrome 5q- syndrome in myelodysplastic syndrome (MDS) 22q11.2 deletion syndrome CHARGE syndrome Cleidocranial dysostosis Ehlers–Danlos syndrome Frontotemporal dementia caused by mutations in progranulin GLUT1 deficiency (DeVivo syndrome) Haploinsufficiency of A20 Holoprosencephaly caused by haploinsufficiency in the Sonic Hedgehog gene Holt–Oram syndrome Marfan syndrome Phelan–McDermid syndrome Polydactyly Dravet Syndrome ZTTK FOXP1 Syndrome NR4A2-related syndrome Methods of detection The most direct method to detect haploinsufficiency is the heterozygous deletion of one allele in a model organism.