Article
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
American journal of medical genetics. Part A - 1 May 2025
Ghasemi Mohammad-Reza, Fateh Sahand Tehrani, Ben-Mahmoud Afif, Gupta Vijay, Stühn Lara G, Lesca Gaetan, Chatron Nicolas, Platzer Konrad, Edery Patrick, Sadeghi Hossein, Isidor Bertrand, Cogné Benjamin, Schulz Heidi L, Krauspe-Stübecke Ilona, Periyasamy Radhakrishnan, Nampoothiri Sheela, Mirfakhraie Reza, Alijanpour Sahar, Syrbe Steffen, Pfeifer Ulrich, Spranger Stephanie, Grundmann-Hauser Kathrin, Haack Tobias B, Papadopoulou Maria T, da Silva Gonçalves Tayrine, Panagiotakaki Eleni, Arzimanoglou Alexis, Tonekaboni Seyed Hassan, Rossi Massimiliano, Korenke G Christoph, Lacassie Yves, Jang Mi-Hyeon, Layman Lawrence C, Miryounesi Mohammad, Kim Hyung-Goo
Abstract excerpt
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12. CNKSR2, also known as CNK2 or MAGUIN,...
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