Article
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2021
Verberne Eline A, Goh Shuxiang, England Jade, van Ginkel Manon, Rafael-Croes Louise, Maas Saskia, Polstra Abeltje, Zarate Yuri A, Bosanko Katherine A, Pechter Kieran B, Bedoukian Emma, Izumi Kosuke, Chaudhry Ayeshah, Robin Nathaniel H, Boothe Megan, Lippa Natalie C, Aggarwal Vimla, De Vivo Darryl C, Lehman Anna, Study Causes, Stockler Sylvia, Bruel Ange-Line, Isidor Bertrand, Lemons Jennifer, Rodriguez-Buritica David F, Richmond Christopher M, Stark Zornitza, Agrawal Pankaj B, Kooy R Frank, Meuwissen Marije E C, Koolen David A, Pfundt Rolf, Lieden Agne, Anderlid Britt-Marie, Glatz Dagmar, Mannens Marcel M A M, Bakshi Madhura, Mallette Frédérick A, van Haelst Mieke M, Campeau Philippe M
Abstract excerpt
PURPOSE: JARID2, located on chromosome 6p22.3, is a regulator of histone methyltransferase complexes that is expressed in human neurons. So far, 13 individuals sharing clinical features including intellectual disability (ID) were reported with de novo heterozygous deletions in 6p22-p24 encompassing the full length JARID2 gene (OMIM 601594). However, all published individuals to date have a deletion of at least...
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