Global InformationMORM syndrome information
| MORM syndrome | |
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| Other names | Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome, Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome |
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| The image shows chromosome 9. The location of the INPP5E gene has been identified in this image and is relevant as it has been associated with MORM syndrome. The gene is located on the Q or long arm of chromosome 9 and is located near 9q34.3. | |
MORM syndrome is an autosomal recessive congenital disorder[1] characterized by mental retardation, truncal obesity, retinal dystrophy, and micropenis".[1] The disorder shares similar characteristics with Bardet–Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders.[1][2] MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age.[1] The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder.
The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans.[3] Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic markers D9S158 and D9S905.[4]
- ^ a b c d Hampshire, D. J.; Ayub, M.; Springell, K.; Roberts, E.; Jafri, H.; Rashid, Y.; Bond, J.; Riley, J. H.; Woods, C. G. (May 2006). "MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34" (PDF). European Journal of Human Genetics. 14 (5): 543–548. doi:10.1038/sj.ejhg.5201577. PMID 16493448. S2CID 20931689.
- ^ Kniffin, Cassandra. "#610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS". OMIM. Retrieved 15 October 2015.
- ^ Jacoby M, Cox JJ, Gayral S, et al. (September 2009). "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse" (PDF). Nat. Genet. 41 (9): 1027–31. doi:10.1038/ng.427. PMID 19668215. S2CID 5249668.
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