Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

Gümüş, Evren; Tunçez, Ebru; Öz, Özlem; Güvenç, Merve Saka

doi:10.1111/ahg.12401

Cited by 6 publications

(6 citation statements)

References 50 publications

(62 reference statements)

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“…The mutations most associated with this syndrome are in BBS1 and BBS10 genes [4,5,7,8], hindering the functioning of primary cilia-sensory organelles that regulate cell signal transduction pathways. Ciliary dysfunction results in a diversity of clinical types involving multiple systems, such as the retina, nervous and genitourinary systems, liver, and heart [1,3,4,7].…”

Section: Introductionmentioning

confidence: 99%

Bardet-Biedl syndrome and hepatosplenomegaly: A case report of a rare presentation

L¹

2023

J Clin Images Med Case Rep

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Section: Introductionmentioning

confidence: 99%

Bardet-Biedl syndrome and hepatosplenomegaly: A case report of a rare presentation

L¹

2023

J Clin Images Med Case Rep

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“…Currently, most of the reported BBS cases are from Europe or the Middle East, [6][7][8][9] and the prevalence of this disease is still unknown in the Chinese population. It is noteworthy that a growing number of studies on patients with similar genetic background were performed to investigate the clinical findings and mutation spectrum of Chinese patients with BBS, [10][11][12][13][14][15][16][17][18] and some trends were found to make progress in the knowledge about this ciliopathy.…”

Section: Introductionmentioning

confidence: 99%

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Tao

Liu

Wang

et al. 2022

European Journal of Ophthalmology

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Purpose Bardet–Biedl syndrome (BBS) is a rare autosomal-recessive inherited disorder characterized by multisystem anomalies. The objective of this study was to detect and analyse pathogenic variants in four Chinese families with BBS. Methods Comprehensive clinical examinations were performed to investigate and evaluate the phenotypes of the affected individuals from four families. Genomic DNA was extracted from peripheral blood. Next-generation sequencing (NGS) was performed for four families, and the presence of pathogenic variants was confirmed via Sanger sequencing. Results There were two males and three females with a mean age of 16.00 years. All probands displayed the primary clinical features of BBS. Mutation screening demonstrated four novel mutations: c.613C>T; p.Q205* in the BBS5 gene, c.1391C>G; p.S464* in the BBS10 gene, and c.155delC; p.S52* and c.1584T>G; p.Y528* in the BBS12 gene. Two previously reported mutations were also identified, including c.534 + 1G>T in the BBS2 gene and c.539G>A; p.G180E in the BBS10 gene. The bioinformatic analysis revealed that all the detected mutations in BBS genes were disease causing. Conclusions This study identified four novel BBS gene mutations in these Chinese families and further expanded the genotypic spectrum of BBS, thus contributing to the literature and understanding of this multisystem disease.

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To the Editor,We thank Pugnaloni et al (2021) for their comments in response to our article (Gumus et al, 2020). First of all, we would like to state that the expression "very-rare cardiac anomaly" has never been mentioned in our publication.

…”

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confidence: 96%

“…First of all, we would like to state that the expression "very-rare cardiac anomaly" has never been mentioned in our publication. The statement in our publication (Gumus et al, 2020) is exactly as follows: ". .…”

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confidence: 99%

Response to Letter to the Editor: “Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet–Biedl syndrome”

Gümüş

Tunçez

Öz

et al. 2021

Annals of Human Genetics

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To the Editor,We thank Pugnaloni et al. (2021) for their comments in response to our article (Gumus et al., 2020). First of all, we would like to state that the expression "very-rare cardiac anomaly" has never been mentioned in our publication. The statement in our publication (Gumus et al., 2020) is exactly as follows: ". . . .atrioventricular canal defect (AVCD), which is a very rare anomaly in BBS patients." In other words, our statement did not specifically refer to cardiological anomalies, it was a general statement. In comparison to the frequency of the common features in Bardet-Biedl syndrome (BBS), such as retinal conerod dystrophy (94%), obesity (89%), postaxial polydactyly (79%), and kidney disease (52%), structural heart defects are among the relatively rare features of BBS (Forsyth & Gunay-Aygun, 2020).In their letter entitled "Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome," Pugnaloni et al. (2020) refer to a study (Digilio et al., 2020) which reports 7.7% (2/26) incidence of BBS among their cohort of 26 patients with AVCD and ciliopathy. In other words, the study (Digilio et al., 2020) was not set up to answer the question of what percentage of BBS patients has AVCD. Pugnaloni et al. ( 2020) also refer to another study (Olson et al., 2019), which reports thoraco-abdominal abnormalities in six of 368 (1.6%) subjects with BBS, while this represents 170× higher prevalence of thoraco-abdominal defects in BBS; compared to the general population, the percentage of cardiac defects in BBS is much lower than that found in motile cilia disorders, like primary ciliary dyskinesia (Forsyth & Gunay-Aygun, 2020;Olson et al., 2019).In summary, while we agree that AVCD in a newborn should raise the possibility of BBS, it should always be kept in mind that the number of patients with AVCD and BBS is very low. We think it is an overstatement to claim that AVCD is the "classical" congenital heart disease in BBS.

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Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

Cited by 6 publications

References 50 publications

Bardet-Biedl syndrome and hepatosplenomegaly: A case report of a rare presentation

Bardet-Biedl syndrome and hepatosplenomegaly: A case report of a rare presentation

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Response to Letter to the Editor: “Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet–Biedl syndrome”

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