De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

Z Powis, I Petrik, J S Cohen, D Escolar, J Burton, C M A van Ravenswaaij-Arts, D A Sival, A P A Stegmann, T Kleefstra, R Pfundt, R Chikarmane, A Begtrup, R Huether, S Tang, D N Shinde

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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 KLF7 (Kruppel-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.

Original languageEnglish
Pages (from-to)1030-1038
Number of pages9
JournalClinical Genetics
Volume93
Issue number5
DOIs
Publication statusPublished - May-2018

Keywords

  • autism
  • clinical diagnostics
  • intellectual disability
  • KLF7
  • Kruppel-like transcription factors
  • whole-exome sequencing
  • zinc finger DNA-binding protein
  • TRANSCRIPTION FACTOR KLF7
  • 2Q33.3-Q34 INTERSTITIAL DELETION
  • INTELLECTUAL DISABILITY
  • FEATURES
  • EXPRESSION
  • MUTATIONS
  • PROTEINS
  • REGIONS
  • SMART
  • MODEL

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