Article
BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene.
Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021
Liu Ziqiang, Peng Qi, Li Jianwei, Rao Chunbao, Lu Xiaomei
Abstract excerpt
BACKGROUND: Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is a rare autosomal recessive neurological disorder caused by mutations in the SLC52A2 gene, which is characterized by early childhood onset of sensorineural hearing loss, bulbar palsy, peripheral neuropathy, and respiratory insufficiency. We aimed to investigate the genetic cause of a 4-year-old boy who suffered from BVVLS2 whose initial presentation was...
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