Article
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
Molecular genetics & genomic medicine - 1 Dec 2025
Furuta Yutaka, Ezell Kimberly M, Hamid Rizwan, Cogan Joy D, Cassini Thomas A, Rives Lynette, McMinn Ashley, Shah Shailee, Peltier Amanda C, Layfield Stephen, Fletcher Robin S, Tedder Matthew L, Louie Raymond J, Lee Jennifer A, Kerkhof Jennifer, Rzasa Jessica, Sadikovic Bekim, Al Mamun Abdullah, Sheehan Jonathan H, Moth Christopher W, Meiler Jens, Vawter-Lee Marissa, Mendoza-Sengco Paola Maria, Holzen Jennifer B, Pruthi Sumit, Phillips John A, Tinker Rory J
Abstract excerpt
BACKGROUND: Intellectual developmental disorder with autism and macrocephaly (IDDAM, OMIM #615032) is an autosomal dominant neurodevelopmental disorder characterized primarily by intellectual disability, autism spectrum disorder, macrocephaly, tall stature, gastrointestinal symptoms, and variable neurological manifestations. Most cases result from de novo pathogenic variants in CHD8. METHODS: We conducted genome...
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