Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome, also known as MORM syndrome (MORMS), is a novel autosomal recessive disorder with a condition related to Bardet-Biedl syndrome [DS:H00418]. A mutation affecting INPP5E ciliary localization and cilium stability has been identified in a family with MORM syndrome. It has been suggested that INPP5E plays an essential role in the primary cilium by controlling ciliary growth factor and PI3K signaling and stability.
Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compere P, Schiffmann SN, Gergely F, Riley JH, Perez-Morga D, Woods CG, Schurmans S
タイトル
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
