KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

Noura Al Dhaheri, Nan Wu, Sen Zhao, Zhihong Wu, Robert D. Blank, Jianguo Zhang, Cathy Raggio, Matthew Halanski, Jianxiong Shen, Ken Noonan, Guixing Qiu, Blaise Nemeth, Sarah Sund, Sally L. Dunwoodie, Gavin Chapman, Ingrid Glurich, Robert D. Steiner, Elizabeth Wohler, Renan Martin, Nara Lygia SobreiraPhilip F. Giampietro

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)


Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in association with other congenital anomalies. The genetic etiology of most VMs remains unknown and their identification may facilitate the development of novel therapeutic and prevention strategies. Exome sequencing was performed on both the discovery cohort of nine unrelated probands from the USA with VMs and the replication cohort from China (Deciphering Disorders Involving Scoliosis & COmorbidities study). The discovery cohort was analyzed using the PhenoDB analysis tool. Heterozygous and homozygous, rare and functional variants were selected and evaluated for their ClinVar, HGMD, OMIM, GWAS, mouse model phenotypes, and other annotations to identify the best candidates. Genes with candidate variants in three or more probands were selected. The replication cohort was analyzed by another in-house developed pipeline. We identified rare heterozygous variants in KIAA1217 in four out of nine probands in the discovery cohort and in five out of 35 probands in the replication cohort. Collectively, we identified 11 KIAA1217 rare variants in 10 probands, three of which have not been described in gnomAD and one of which is a nonsense variant. We propose that genetic variations of KIAA1217 may contribute to the etiology of VMs.

Original languageEnglish
Pages (from-to)1664-1672
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
Publication statusPublished - Jul 1 2020


  • KIAA1217
  • cervical vertebral fusion
  • spine abnormalities
  • spine growth and development
  • vertebral malformation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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