9q34 deletion syndrome

9q34 deletion syndrome
Classification and external resources
OMIM	610253
DiseasesDB	32302

9q34 deletion syndrome, also known as Kleefstra syndrome, is a genetic disorder. Terminal deletions of chromosome 9q34 have been associated with a distinctive facial appearance and learning disability. The facial features typically described include arched eyebrows, midface hypoplasia, prominent jaw and a pouting lower lip. From analysis of chromosomal breakpoints, as well as gene sequencing in suggestive cases, Kleefstra and colleagues identified EHMT1 as the causative gene^[1]. 9q34 deletion syndrome is now also known as Kleefstra syndrome, and has a dedicated support group: http://www.kleefstrasyndrome.org.

References

1. ^ Kleefstra et al., Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet. 2005 Apr;42(4):299-306.