Hampshire et al. (2006) reported a consanguineous Pakistani kindred in which 14 individuals were affected with an autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital nonprogressive retinal dystrophy, and micropenis in males. The authors suggested ... Hampshire et al. (2006) reported a consanguineous Pakistani kindred in which 14 individuals were affected with an autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital nonprogressive retinal dystrophy, and micropenis in males. The authors suggested the acronym 'MORM' syndrome. The phenotype was similar to Bardet-Biedl syndrome (BBS; 209900) and Cohen syndrome (COH1; 216550) but could be distinguished by the age of onset and nonprogressive nature of the visual impairment, and the lack several of characteristics, including dysmorphic facies, skin or gingival infection, microcephaly, 'mottled retina,' polydactyly, and testicular anomalies. The family originated from a valley in the Salt Range of Punjab, Pakistan. Family lore maintains that 16 Arabs settled in the valley a 1,000 years ago and that descendants have always married within the family since that time. The village currently numbers about 5,000 with 5 different clans; the affected pedigree is a subgroup of 1 of these 5 clans, and affected individuals could be traced back to 1 founding couple.
In affected members of a family with MORM syndrome, Jacoby et al. (2009) identified a homozygous mutation (Q627X; 613037.0001) in the INPP5E gene. In vitro functional expression studies showed that the mutant protein had impaired localization in cilia ... In affected members of a family with MORM syndrome, Jacoby et al. (2009) identified a homozygous mutation (Q627X; 613037.0001) in the INPP5E gene. In vitro functional expression studies showed that the mutant protein had impaired localization in cilia and was unable to stabilize ciliary structures. However, phosphatase activity was retained.