What question did this study set out to answer?

This research aims to investigate Brown-Vialetto-Van Laere syndrome in Indian patients and its molecular basis.

December 22, 2025Journal of Pediatric Genetics0 citations

Ponto-bulbar Palsy, Sensorineural Hearing Loss, Tongue Fasciculation: Molecular Study & Review of Indian Cases

ASAnkur SinghIndian Institute of Technology Gandhinagar SGSibasish GhoshHomi Bhabha National Institute DPDurgadatta PattanayakInstitute of Medical Sciences and Sum Hospital

Key Points

This research aims to investigate Brown-Vialetto-Van Laere syndrome in Indian patients and its molecular basis.
Conducted a molecular study to confirm diagnosis
Detailed clinical features of Indian cases
Analyzed gene variations related to the syndrome
Confirmed diagnosis through molecular study
Highlighted recurrent pathogenic variation in SLC52A3 gene
Tabulated clinical features of Indian cases of BVVL

Abstract

Brown-Vialetto- Van Laere (BVVL) syndrome is neurodegenerative condition, characterised by ponto-bulbar palsy and sensori-neural hearing loss. Since, this is a rare condition with common sign and symptoms, diagnosis is usually missed or delayed. The above condition is Riboflavin transporter defect which responds to riboflavin therapy. Molecular study confirmed the diagnosis and found recurrent pathogenic variation c.1238 C>A; p Val 413 Asp in exon 5 of SLC52A3 gene in present case. We tabulated all Indian cases of BVVL and highlighted their clinical features and genotype. BVVL type 1 is the most common type, reported from Indian patients.

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