Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

doi:10.1038/s41436-019-0445-x

Article

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2019

Besnard Thomas, Sloboda Natacha, Goldenberg Alice, Küry Sébastien, Cogné Benjamin, Breheret Flora, Trochu Eva, Conrad Solène, Vincent Marie, Deb Wallid, Balguerie Xavier, Barbarot Sébastien, Baujat Geneviève, Ben-Omran Tawfeg, Bursztejn Anne-Claire, Carmignac Virginie, Datta Alexandre N, Delignières Aline, Faivre Laurence, Gardie Betty, Guéant Jean-Louis, Kuentz Paul, Lenglet Marion, Nassogne Marie-Cécile, Ramaekers Vincent, Schnur Rhonda E, Si Yue, Torti Erin, Thevenon Julien, Vabres Pierre, Van Maldergem Lionel, Wand Dorothea, Wiedemann Arnaud, Cariou Bertrand, Redon Richard, Lamazière Antonin, Bézieau Stéphane, Feillet Francois, Isidor Bertrand

Abstract excerpt

PURPOSE: Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and...

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Abstract excerpt

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