A case report on unusual cause of childhood obesity and visual disturbances-Bardet-Biedl syndrome
DOI:
https://doi.org/10.18203/2320-6012.ijrms20242970Keywords:
Obesity, BBS10 gene, Bardet-Biedl-syndrome, Retinal dysfunctionAbstract
Bardet-Biedl syndrome (BBS) represents a rare genetic condition distinguished by a multifaceted set of clinical features, including obesity, retinal dystrophy, polydactyly, renal dysfunctions, and cognitive dysfunction. BBS mostly affects children of consanguineous marriages. It is frequently overlooked during initial pediatric examinations. The lack of syndromic diagnostic strategy for identifying genetic disorders by healthcare professionals is being acknowledged as a significant concern. Here, we reported a patient (9 year 4 months old male) born to second degree consanguineous parents, who presented with major features of Bardet-Biedl Syndrome (BBS). The patient came to us with the symptoms including increasing weight gain and visual disturbances. In our case, the diagnosis was made after a comprehensive clinical assessment and genetic testing. Genetic testing showed that the patient had a heterozygous missense variant of the BBS10 gene (chr12: g.76347012 C>A; Depth: 117x). This result confirmed the diagnosis of Bardet-Biedl-Syndrome. This case report highlights a patient diagnosed with BBS, focusing on the clinical manifestations, genetic characteristics and potential avenues for future research.
References
Klein D, Ammann F. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci. 1969;9(3):479-513.
Hooda AK, Karan SC, Bishnoi JS, Nandwani A, Sinha T. Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease. Indian J Nephrol. 2009;19(3):112-4.
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36(6):437-46.
Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O. Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. Hum Mutat. 2019;40(11):2068-87.
Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129(6):1201-13.
Mandal RK, Pande R, Kc RS, Acharya B. Bardet-Biedl syndrome: a case report from Nepal. Asian J Med Sci. 2021;12(8):158–63.
Andrade LJ, Andrade R, França CS, Bittencourt AV. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. Arq Bras Oftalmol. 2009;72(5):694-6.
Dervisoglu E, Isgoren S, Kasgari D, Demir H, Yilmaz A. Obesity control and low protein diet preserve or even improve renal functions in Bardet-Biedl syndrome: a report of two cases. Med Sci Monit. 2011;17(1): 12-4.
Li H, He J, Leong I, Huang R, Shi X. Central precocious puberty occurring in Bardet-Biedl syndrome-10 as a method for self-protection of human reproductive function: A case report. Exp Ther Med. 2022;24(3):574.
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, et al. Bardet-Biedl syndrome: a case series. J Med Case Rep. 2022;16(1):169.
Savatt JM, Myers SM. Genetic testing in neurodevelopmental disorders. Front Pediatr. 2021;9:526779.
Koscinski I, Mark M, Messaddeq N, Braun JJ, Celebi C, Muller J, et al. Reproduction function in male patients with Bardet Biedl Syndrome. J Clin Endocrinol Metab. 2020;105(12):4417–29.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG laboratory quality assurance committee (2015) standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24.
Álvarez-Satta M, Castro-Sánchez S, Valverde D. Bardet-Biedl syndrome as a chaperonopathy: dissecting the major role of chaperonin-like BBS Proteins (BBS6-BBS10-BBS12). Front Mol Biosci. 2017;4:55.
Dong X, Li Z, Wang D, Xiong Y, Li H, Yang P, et al. Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report. Exp Ther Med. 2022;24(6):721.
