MORM syndrome (mental retardation, truncal obesity, retinal dystrophy, and micropenis), a new autosomal recessive disorder, links to 9q34

Hampshire, D.J.; Ayub, M.; Springell, K.; Roberts, E.; Jafri, H.; Rashid, Y.; Bond, J.; Riley, J.H.; Woods, C.G.

doi:10.1038/sj.ejhg.5201577

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy, and micropenis), a new autosomal recessive disorder, links to 9q34

Hampshire, D.J.; Ayub, M.; Springell, K.; Roberts, E.; Jafri, H.; Rashid, Y.; Bond, J.; Riley, J.H.; Woods, C.G.

Authors

D.J. Hampshire

M. Ayub

K. Springell

E. Roberts

H. Jafri

Y. Rashid

J. Bond

J.H. Riley

C.G. Woods

Abstract

A consanguineous pedigree is described where 14 individuals are affected with a novel autosomal recessive disorder, which causes static moderate mental retardation, truncal obesity, a congenital nonprogressive retinal dystrophy and micropenis in males. We have tentatively named this condition MORM syndrome. It shows similarities to Bardet–Biedl syndrome and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', polydactyly and small penis without testicular anomalies. Furthermore, linkage to the known Bardet–Biedl (BBS1–8) and Cohen syndrome loci was excluded. Autozygosity mapping identified a single homozygous subtelomeric region shared by all affecteds on chromosome 9q34.3, with a maximum LOD score of 5.64. We believe this to be the first example of the identification of a subtelomeric recessive locus by autozygosity mapping.

Citation

Hampshire, D., Ayub, M., Springell, K., Roberts, E., Jafri, H., Rashid, Y., …Woods, C. (2006). MORM syndrome (mental retardation, truncal obesity, retinal dystrophy, and micropenis), a new autosomal recessive disorder, links to 9q34. European Journal of Human Genetics, 14(5), 543-548. https://doi.org/10.1038/sj.ejhg.5201577

Journal Article Type	Article
Publication Date	May 1, 2006
Deposit Date	Jun 21, 2011
Publicly Available Date	Jul 12, 2011
Journal	European Journal of Human Genetics
Print ISSN	1018-4813
Electronic ISSN	1476-5438
Publisher	Springer Nature [academic journals on nature.com]
Peer Reviewed	Peer Reviewed
Volume	14
Issue	5
Pages	543-548
DOI	https://doi.org/10.1038/sj.ejhg.5201577
Keywords	Chromosome 9q34.3, Subtelomeric linkage, Mental retardation, Micropenis, Obesity, Retinal dystrophy.