"MORM syndrome"

INPP5E Preserves Genomic Stability through Regulation of Mitosis The partially understood phosphoinositide signaling cascade regulates multiple aspects of cellular metabolism. Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase that is mutated in the developmental disorders Joubert and MORM syndromes, is essential for the function of the primary cilium and maintenance

, MYT1L polymorphism, MO1 syndrome, Pseudohypoparathyroidism 1A (PHP1A), Prader-Willi syndrome, Schaaf-Yang syndrome, WAGR syndrome, Fragile X syndrome, Borjesson-Forssman-Lehmann syndrome, Carpenter syndrome, Chung-Jansen syndrome, Cohen syndrome, 2q37 deletion, Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome, Kabuki syndrome, MEHMO syndrome, MORM syndrome, SBIDDS, SINO

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

stability. In human INPP5E, we identified a mutation affecting INPP5E ciliary localization and cilium stability in a family with MORM syndrome, a condition related to Bardet-Biedl syndrome. Together, our results show that INPP5E plays an essential role in the primary cilium by controlling ciliary growth factor and PI3K signaling and stability, and highlight the consequences of INPP5E dysfunction.

syndrome, Cri-du-chat syndrome, Alstr�m syndrome, Angelman syndrome, Williams syndrome, MORM syndrome and monosomy 1p36 (see these terms). Mirhosseini-Holmes-Walton syndrome is considered allelic to CS and is clinically indistinguishable.Antenatal diagnosisAntenatal diagnosis is possible if mutations in family members have been identified.Genetic counselingCS is transmitted autosomal recessively