Article
Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination.
Molecular genetics & genomic medicine - 1 May 2026
Huang Si, Li Yiyang, Xin Jing, Mo Wenhui, Lin Xiuwen, Mai Bingbin, He Junbin, Zhong Xiaoli, Xu Jiaxin
Abstract excerpt
BACKGROUND: Poretti-Boltshauser syndrome (PBS) is an autosomal recessive disorder caused by biallelic pathogenic variants in the LAMA1 gene, typically presenting with cerebellar dysplasia and fourth ventricle abnormalities. While neurological and ocular manifestations are well recognized, an association between LAMA1 variants and central nervous system (CNS) dysmyelination has not been previously established, and...
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