Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jul 1;12(7):1032.
doi: 10.3390/genes12071032.

Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort

Hélène Mathieu  1 , Aurélia Spataru  1 , José Antonio Aragon-Martin  2 , Anne Child  3 , Soraya Barchi  1 , Carole Fortin  4   5 , Stefan Parent  1   6 , Florina Moldovan  1   7
Affiliations

Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort

Hélène Mathieu et al. Genes (Basel). .

Abstract

Adolescent idiopathic scoliosis (AIS) is a complex common disorder of multifactorial etiology defined by a deviation of the spine in three dimensions that affects approximately 2% to 4% of adolescents. Risk factors include other affected family members, suggesting a genetic component to the disease. The POC5 gene was identified as one of the first ciliary candidate genes for AIS, as three variants were identified in large families with multiple members affected with idiopathic scoliosis. To assess the prevalence of p.(A429V), p.(A446T), and p.(A455P) POC5 variants in patients with AIS, we used next-generation sequencing in our cohort of French-Canadian and British families and sporadic cases. Our study highlighted a prevalence of 13% for POC5 variants, 7.5% for p.(A429V), and 6.4% for p.(A446T). These results suggest a higher prevalence of the aforementioned POC5 coding variants in patients with AIS compared to the general population.

Keywords: POC5; adolescent idiopathic scoliosis; cilia; genetics; spine deformity.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

Figures

Figure 1
Figure 1
Pedigrees of French-Canadian families showing the co-segregation of POC5 variants (c. 1286C > T (p.(A429V) and c.1336G > A (p.(A446T)) with the disease. Open circles and squares indicate unaffected individuals, Blackened circles and squares indicate affected females and males, respectively. Blue circles and squares indicate juvenile females and males. Yellows stars indicate exomed AIS patients. * Incomplete penetrance.
See this image and copyright information in PMC

References

    1. Edery P., Margaritte-Jeannin P., Biot B., Labalme A., Bernard J.C., Chastang J., Kassai B., Plais M.H., Moldovan F., Clerget-Darpoux F. New disease gene location and high genetic heterogeneity in idiopathic scoliosis. Eur. J. Hum. Genet. 2011;19:865–869. doi: 10.1038/ejhg.2011.31. - DOI - PMC - PubMed
    1. Fadzan M., Bettany-Saltikov J. Etiological theories of adolescent idiopathic scoliosis: past and present. Open Orthop. J. 2017;11:1466–1489. doi: 10.2174/1874325001711011466. - DOI - PMC - PubMed
    1. Konieczny M.R., Senyurt H., Krauspe R. Epidemiology of adolescent idiopathic scoliosis. J. Child. Orthop. 2013;7:3–9. doi: 10.1007/s11832-012-0457-4. - DOI - PMC - PubMed
    1. Grivas T.B., Vasiliadis E., Mouzakis V., Mihas C., Koufopoulos G. Association between adolescent idiopathic scoliosis prevalence and age at menarche in different geographic latitudes. Scoliosis. 2006;1:9. doi: 10.1186/1748-7161-1-9. - DOI - PMC - PubMed
    1. Mongird-Nakonieczna J., Kozlowski B. Functional and structural scoliosis in monozygotic twins. Chir. Narzadow Ruchu Ortop. Pol. 1976;41:34–36. - PubMed

Publication types

LinkOut - more resources