ArticleAmerican journal of medical genetics. Part A2020
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 25 citations in OpenAlex.
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- Proximity Mapping of Desmosomes Reveals a Striking Shift in Their Molecular Neighborhood Associated With Maturation.Molecular & cellular proteomics : MCP · 2024Article
- Anxiety and dysautonomia symptoms in patients with a NaClinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Dinucleotide composition representation -based deep learning to predict scoliosis-associated Fibrillin-1 genotypes.Frontiers in genetics · 2024Article
- Effects of nonsynonymous single nucleotide polymorphisms of theFrontiers in veterinary science · 2024Article
- The role of DNA methylation on gene expression in the vertebrae of ancestrally benzo[a]pyrene exposed F1 and F3 male medaka.Epigenetics · 2023Article
- COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.Human molecular genetics · 2023Article
- Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.PLoS genetics · 2022Article
- Immuno-Modulatory Effects of Intervertebral Disc Cells.Frontiers in cell and developmental biology · 2022Review
- Comprehensive Profiling of Mammalian Tribbles Interactomes Implicates TRIB3 in Gene Repression.Cancers · 2021Article
- Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.Genes · 2021Article
- Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.Molecular genetics & genomic medicine · 2021Article
- Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.Human molecular genetics · 2020Article
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Authors and funding
21 authors at 10 institutions in 4 countries.
Funding
Abstract
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.
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