Hampshire, D. J. and Ayub, M. and Springell, K. and Roberts, E. and Jafri, H. and Rashid, Y. and Bond, J. and Riley, J. H. and Woods, C. G. (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). pp. 543-548.
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.
|Keywords:||Chromosome 9q34.3, Subtelomeric linkage, Mental retardation, Micropenis, Obesity, Retinal dystrophy.|
|Full text:||(AM) Accepted Manuscript|
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|Publisher Web site:||http://dx.doi.org/10.1038/sj.ejhg.5201577|
|Record Created:||05 Jul 2011 11:50|
|Last Modified:||12 Jul 2011 10:34|
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