Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families

Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families Publisher

Akbaroghli S¹ ; Kooshavar D² ; Golchehre Z² ; Karamzade A² ; Saberi M² ; Alaei MR¹ ; Abbasi Sadegh M¹ ; Asadollahi M² ; Keramatipour M²

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1. Department of Pediatrics, Mofid Childrenâ€™s Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Child Neurology Published:2022

Abstract

Objectives Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic ciliopathy, which includes multi-organ clinical manifestations. The known genes involved in the development of the disease account for the causality in about 80% of the examined cases. Materials & Methods We investigated two Iranian unrelated clinically diagnosed BBS patients, using a targeted next-generation sequencing panel consisting of 18 known BBS genes. The detected variants were investigated in the pedigree and studied using in silico tools for their pathogenicity. Patients’ phenotypes were also assessed. Results Novel homozygous variants were detected in BBS9 gene in each patient, c.2014C>T, p.Gln672Ter and c.673_674insAA, p.Gln225GlnfsX10. The variants were segregated in the corresponding pedigree and were authenticated to obtain enough evidence to be categorized as pathogenic variants. Conclusion Patients with truncating mutations in the same gene seem to show similar phenotypic features. Detection of novel and family-specific mutations is typically expected in the genetic hereditary diseases in Iran, which can finally lead to prevent the recurrence of the disease in the consanguineous marriages. © 2022, Iranian Child Neurology Society. All rights reserved.

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Mohammad Hossein Modarressi (2)

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Style	Citing Format
MLA	Akbaroghli S, et al.. "Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families." Iranian Journal of Child Neurology, vol. 16, no. 1, 2022, pp. 123-133.
APA	Akbaroghli S, Kooshavar D, Golchehre Z, Karamzade A, Saberi M, Alaei MR, Abbasi Sadegh M, Asadollahi M, Keramatipour M (2022). Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families. Iranian Journal of Child Neurology, 16(1), 123-133.
Chicago	Akbaroghli S, Kooshavar D, Golchehre Z, Karamzade A, Saberi M, Alaei MR, Abbasi Sadegh M, Asadollahi M, Keramatipour M. "Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families." Iranian Journal of Child Neurology 16, no. 1 (2022): 123-133.
Harvard	Akbaroghli S et al. (2022) 'Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families', Iranian Journal of Child Neurology, 16(1), pp. 123-133.
Vancouver	Akbaroghli S, Kooshavar D, Golchehre Z, Karamzade A, Saberi M, Alaei MR, et al.. Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families. Iranian Journal of Child Neurology. 2022;16(1):123-133.
BibTex	@article{ author = {Akbaroghli S and Kooshavar D and Golchehre Z and Karamzade A and Saberi M and Alaei MR and Abbasi Sadegh M and Asadollahi M and Keramatipour M}, title = {Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families}, journal = {Iranian Journal of Child Neurology}, volume = {16}, number = {1}, pages = {123-133}, year = {2022} }
RIS	TY - JOUR AU - Akbaroghli S AU - Kooshavar D AU - Golchehre Z AU - Karamzade A AU - Saberi M AU - Alaei MR AU - Abbasi Sadegh M AU - Asadollahi M AU - Keramatipour M TI - Next-Generation Sequencing Identified Novel Truncating Mutations in Bbs9 Causing Bardet Biedl Syndrome in Two Iranian Consanguineous Families JO - Iranian Journal of Child Neurology VL - 16 IS - 1 SP - 123 EP - 133 PY - 2022 ER -

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