Gene testing more beneficial than clinical review in identifying Townes-Brocks Syndrome
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Key takeaways:
- Townes-Brocks Syndrome is a condition caused by SALL1 mutations.
- Kidney gene testing can reveal syndromes not seen by clinical review.
AUSTIN, Texas — A broad kidney gene panel will frequently help diagnosis renal syndromes more effectively than classical clinical review alone, researchers reported here.
Anna Vostrizansky, MS, from Natera Inc., and colleagues from Ochsner University Hospital and Clinics presented data in a poster presentation on diagnosing Townes-Brocks Syndrome, a condition caused by SALL1 mutations and characterized by an imperforate anus, dysplastic ear with or without hearing impairment and thumb malformations.
The condition was thought to be more common in those with kidney disease, and a retrospective analysis of SALL1 mutations was conducted using Renasight (Natera Inc.) a broad-based renal gene panel test that uses a blood or saliva sample to test genes associated with chronic kidney disease.
Twenty-two patients from 35,044 samples were found to have pathogenic or likely pathogenic and extra renal variants. All 22 patients had kidney functional or structural abnormalities; 19 patients were diagnosed with CKD and of those patients, 55%, or 11 patients, reported CKD stage 3.
Other renal disease features included proteinuria (12 of 22 patients; 55%), renal agenesis/hypoplasia (seven patients; 32%) focal segmental glomerulosclerosis (four patients; 18%) and kidney cysts (three patients; 14%).
Median age in the group was 23 years. No patients were transplanted at the time of testing.
The prevalence rate of Townes-Brocks Syndrome among patients with kidney disease was 1:1,593 vs. 1:238,000 in the general population, the authors wrote.
The researchers concluded that a broad kidney gene panel will more frequently diagnose Townes-Brocks Syndrome than the classical clinical features alone. Traditionally, the syndrome was ascertained using a molecular diagnosis and those patients with mild or atypical presentations were often missed.
Deziel is an Editorial Advisory Board Member for Healio/Nephrology News & Issues.
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Vostrizansky A, et al. #348. Presented at: National Kidney Foundation Spring Clinical Meetings; April 11-15, 2023; Austin, Texas.
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