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Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review

Publication ,  Journal Article
Kishnani, S; Riley, K; Mikati, MA; Jiang, YH
Published in: Journal of Pediatric Neurology
June 1, 2021

CIC encodes capicua protein, a transcriptional repressor that is highly expressed in developing brains. A previous study reported pathogenic mutations in the CIC gene in five individuals with significant neurodevelopmental disorders of intellectual disability, epilepsy, and autism spectrum disorder. All these mutations are either de novo or likely due to germline mosaicism. Here we reported a pathogenic mutation (c.2694dupC; p.K899Qfs X32: NM_015125) in the CIC gene in three members of a two-generation family presenting with neurodevelopmental impairment but has significant phenotypic variability. Interestingly, loss of function variants of somatic origin are frequently found in cancers of brain and other organs. We summarized germline and somatic pathogenic or loss of function variants in CIC gene in public genome databases through in silico analysis and published literature. Our findings provided further evidence to support the review of haploinsufficiency of CIC in neurodevelopmental disorder, in addition to suggesting a strong modifier effect for the CIC mutations.

Duke Scholars

Published In

Journal of Pediatric Neurology

DOI

EISSN

1875-9041

ISSN

1304-2580

Publication Date

June 1, 2021

Volume

19

Issue

3

Start / End Page

193 / 201

Related Subject Headings

  • Neurology & Neurosurgery
  • 3213 Paediatrics
  • 3209 Neurosciences
  • 11 Medical and Health Sciences
 

Citation

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MLA
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Kishnani, S., Riley, K., Mikati, M. A., & Jiang, Y. H. (2021). Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review. Journal of Pediatric Neurology, 19(3), 193–201. https://doi.org/10.1055/s-0040-1714070
Kishnani, S., K. Riley, M. A. Mikati, and Y. H. Jiang. “Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review.” Journal of Pediatric Neurology 19, no. 3 (June 1, 2021): 193–201. https://doi.org/10.1055/s-0040-1714070.
Kishnani S, Riley K, Mikati MA, Jiang YH. Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review. Journal of Pediatric Neurology. 2021 Jun 1;19(3):193–201.
Kishnani, S., et al. “Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review.” Journal of Pediatric Neurology, vol. 19, no. 3, June 2021, pp. 193–201. Scopus, doi:10.1055/s-0040-1714070.
Kishnani S, Riley K, Mikati MA, Jiang YH. Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review. Journal of Pediatric Neurology. 2021 Jun 1;19(3):193–201.
Journal cover image

Published In

Journal of Pediatric Neurology

DOI

EISSN

1875-9041

ISSN

1304-2580

Publication Date

June 1, 2021

Volume

19

Issue

3

Start / End Page

193 / 201

Related Subject Headings

  • Neurology & Neurosurgery
  • 3213 Paediatrics
  • 3209 Neurosciences
  • 11 Medical and Health Sciences