De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorder is expanding. Among these genes is KLF7 (Krüppel-like factor 7), which is located at 2q33.3 and has been implicated in several developmental processes. KLF7 has been proposed to be a candidate gene for the phenotype of autism features seen in patients with a 2q33.3q34 deletion. Herein, we report 4 unrelated individuals with de novo KLF7 missense variants who share similar clinical features of developmental delay/ID, hypotonia, feeding/swallowing issues, psychiatric features and neuromuscular symptoms, and add to the knowledge about the phenotypic spectrum associated with KLF7 haploinsufficiency.
['Powis|Z|Z|0000-0002-1347-4358', 'Petrik|I|I|', 'Cohen|J S|JS|', 'Escolar|D|D|', 'Burton|J|J|', 'van Ravenswaaij-Arts|C M A|CMA|', 'Sival|D A|DA|', 'Stegmann|A P A|APA|', 'Kleefstra|T|T|', 'Pfundt|R|R|', 'Chikarmane|R|R|', 'Begtrup|A|A|', 'Huether|R|R|0000-0001-7077-7470', 'Tang|S|S|', 'Shinde|D N|DN|']
D000293:Adolescent D000067877:Autism Spectrum Disorder D002648:Child D002675:Child, Preschool D002658:Developmental Disabilities D005260:Female D020022:Genetic Predisposition to Disease D057895:Haploinsufficiency D006801:Humans D008607:Intellectual Disability D051741:Kruppel-Like Transcription Factors D008297:Male D020125:Mutation, Missense D000073359:Whole Exome Sequencing
KLF7 intellectual disability autism Krüppel-like transcription factors clinical diagnostics whole-exome sequencing zinc finger DNA-binding protein