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- Title
De novo variants in <italic>KLF7</italic> are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
- Authors
Powis, Z.; Petrik, I.; Huether, R.; Tang, S.; Shinde, D. N.; Cohen, J. S.; Escolar, D.; Burton, J.; van Ravenswaaij‐Arts, C. M. A.; Sival, D. A.; Kleefstra, T.; Pfundt, R.; Stegmann, A. P. A.; Chikarmane, R.; Begtrup, A.
- Abstract
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 <italic>KLF7</italic> (Krüppel‐like factor 7), which is located at 2q33.3 and has been implicated in several developmental processes. <italic>KLF7</italic> 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 <italic>KLF7</italic> 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 <italic>KLF7</italic> haploinsufficiency.
- Subjects
AUTISM; DISABILITIES; TRANSCRIPTION factors; EXONS (Genetics); ZINC-finger proteins
- Publication
Clinical Genetics, 2018, Vol 93, Issue 5, p1030
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13198