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Syndromic ciliopathy: a taiwanese single-center study.
Yu-Wen Pan1, Tsung-Ying Ou2, Yen-Yin Chou1,3
1Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, No. 138, Shengli Rd., North Dist, Tainan, 70403, Taiwan, Republic of China.
BMC Medical Genomics
|April 26, 2024
Summary
Whole exome sequencing identified genetic causes for syndromic ciliopathies in Taiwanese patients. A recurrent Bardet-Biedl syndrome 2 mutation suggests a founder effect in this population.
Area of Science:
- Genetics
- Molecular Biology
- Medical Genetics
Background:
- Syndromic ciliopathies are congenital disorders with overlapping symptoms like obesity, visual impairment, skeletal anomalies, intellectual disability, and kidney disease.
- Defective ciliary function or formation is the core pathophysiology across these heterogeneous disorders.
- While numerous genes are implicated, the genetic basis remains unknown for some patients.
Purpose of the Study:
- To identify the genetic causes of syndromic ciliopathies in Taiwanese patients.
- To elucidate the mutation spectrum of syndromic ciliopathies within this specific population.
- To evaluate the utility of whole exome sequencing in diagnosing these complex genetic disorders.
Main Methods:
- Recruitment of patients meeting clinical criteria for syndromic ciliopathies at a single center in Southern Taiwan.
- Application of whole exome sequencing (WES) for genotype determination.
- Collection of clinical information concurrent with patient enrollment.
Main Results:
- Molecular diagnosis of syndromic ciliopathy was achieved in 14 cases.
- Bardet-Biedl syndrome (BBS) was the most frequent diagnosis (10 cases), including 8 with BBS2 and 2 with BBS7.
- Novel variants were identified, including a recurrent BBS2 splice site mutation (c.534+1G>T) in all BBS2 patients, indicating a potential founder effect.
Conclusions:
- Whole exome sequencing is effective in identifying pathogenic variants and genetic hotspots in ciliopathic patients.
- The study highlights a recurrent mutation in BBS2, suggesting a founder effect in the Taiwanese population.
- WES should be considered a primary genetic testing strategy for genetically heterogeneous disorders with diverse clinical presentations.
