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

• DOI: 10.1038/sj.ejhg.5201577
• Publication Date: 2006-02-22T10:09:33Z
• Authors: Daniel J Hampshire; Mohammed Ayub; Kelly Springell; Emma Roberts; Hussain Jafri; Yasmin Rashid; Jacquelyn Bond; John H Riley; C Geoffrey Woods
• Keywords: Male; 2. Zero hunger; 0303 health sciences; Subtelomeric linkage; Eye Diseases; Models, Genetic; Genetic Linkage; Retinal dystrophy; Chromosome Mapping; Mental retardation; Genes, Recessive; Micropenis; Syndrome; 03 medical and health sciences; Intellectual Disability; Humans; Female; Obesity; Lod Score; Chromosome 9q34.3; Chromosomes, Human, Pair 9; Retinal dystrophy.

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.