Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
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
Authors

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.
Related Docs
View other Related Docs
1. Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet–Biedl Syndrome, Biochemical Genetics (2025)
2. Three Iranian Patients With Rare Subtypes of Hereditary Spastic Paraplegia (Hsp): Spg76, Spg56, and Spg69, Neurogenetics (2025)
3. Whole Exome Sequencing Reveals a Xpnpep3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient, Iranian Biomedical Journal (2020)
Experts (# of related papers)
View all Related Experts
Mohammad Hossein Modarressi (1)
Maryam Daneshpajooh (1)
Other Related Docs
4. A Mutational Hotspot in the Lamp2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of the C.877C>T Variant: A Descriptive Study, Cell Journal (2024)
5. Crb1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum, Iranian Biomedical Journal (2019)
6. Specific Distribution of Gjb2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population, Journal of Sciences# Islamic Republic of Iran (2017)
7. Co-Existence of Phenylketonuria Either With Maple Syrup Urine Disease or Sandhoff Disease in Two Patients From Iran: Emphasizing the Role of Consanguinity, Journal of Pediatric Endocrinology and Metabolism (2016)
8. Diagnostic Whole Exome Sequencing in Presumably Autosomal Recessive Inherited Retinal Dystrophies in an Iranian Population, Scientific Reports (2025)
9. Expanding Clinical Phenotype and Novel Insights Into the Pathogenesis of Icos Deficiency, Journal of Clinical Immunology (2020)
10. Homozygosity Mapping and Direct Sequencing Identify a Novel Pathogenic Variant in the Cisd2 Gene in an Iranian Wolfram Syndrome Family, Acta Diabetologica (2020)
11. Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa, Experimental Dermatology (2019)
12. A Novel Mutation in Alpha Sarcoglycan Gene in an Iranian Family With Limb Girdle Muscular Dystrophy 2D, Neurological Research (2016)
13. Identification of a Novel Truncating Variant in Ahi1 Gene and a Brief Review on Mutations Spectrum, Molecular Biology Reports (2021)
14. Jam2 Variants Can Be More Common in Primary Familial Brain Calcification (Pfbc) Cases Than Those Appear; May Be Due to a Founder Mutation, Neurological Sciences (2024)
15. Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran, Journal of Audiology and Otology (2019)
16. Novel Disease-Causing Variants in a Cohort of Iranian Patients With Metachromatic Leukodystrophy and in Silico Analysis of Their Pathogenicity, Clinical Neurology and Neurosurgery (2021)
17. Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort, Biochemical Genetics (2024)
18. Molecular Investigation of Wfs1 Gene Exon 8 in Iranian Patients With Wolfram Syndrome, International Journal of Diabetes in Developing Countries (2016)
19. A Novel Tecta Mutation Causes Arnshl, International Journal of Pediatric Otorhinolaryngology (2017)
20. Joubert Syndrome Caused by a Tmem67 Mutation: Genotype-Phenotype Analysis, Neurology Asia (2024)