1. ¹Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK
2. ²Department of Psychiatry of Learning Disabilities, St Luke's Hospital, Middlesbrough TS4 3AF, UK
3. ³Department of Obstetrics and Gynaecology, Lady Wellington Hospital, Lahore, Pakistan
4. ⁴Discovery and Pipeline Genetics, GSK, New Frontiers Science Park North, Harlow CM19 5AW, UK
5. ⁵Department of Medical Genetics, CIMR, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2BP, UK

Correspondence: Dr CG Woods, Department of Medical Genetics, CIMR, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2BP, UK. Tel: +44 1223 762524; Fax: +44 1223 762323; E-mail: cw347@cam.ac.uk

⁶These authors contributed equally to the work.

Received 9 August 2005; Revised 15 November 2005; Accepted 16 November 2005; Published online 22 February 2006.

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.