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Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees. | LitMetric

AI Article Synopsis

  • * Whole-exome sequencing results uncovered 9 pathogenic variants across six BBS-related genes, with one particular gene being the most frequently implicated in nearly 42% of the families.
  • * The research identified several novel mutations that highlight the genetic diversity of BBS among Pakistani patients, suggesting that variations in other genes may affect clinical symptoms even among those with the same mutation.

Article Abstract

This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes. Whole exome sequencing was conducted on one affected individual from each family. The computational functional analysis predicted the variants' pathogenic effects and modeled the mutated proteins. Whole-exome sequencing revealed 9 pathogenic variants in six genes associated with BBS in 12 families. The was the most common BBS causative gene identified in five families (5/12, 41.6%), with one novel (c.1226G>A, p.Gly409Glu) and two reported variants. c.774G>A, Thr259LeuTer21 was the most frequent allele in three families 3/5 (60%). Two variants, c.223C>T, p.Arg75Ter and a novel, c. 252delA, p.Lys85STer39 were detected in the gene. A novel 8bp deletion c.387_394delAAATAAAA, p. Asn130GlyfsTer3 was found in gene. Three known variants were detected in , and genes. Identification of novel likely pathogenic variants in three genes reaffirms the allelic and genetic heterogeneity of BBS in Pakistani patients. The clinical differences among patients carrying the same pathogenic variant may be due to other factors influencing the phenotype, including variants in other modifier genes.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956862PMC
http://dx.doi.org/10.3390/genes14020404DOI Listing

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