Novel LAMA2 variants identified in a patient with white matter abnormalities

Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2)...

Descripción completa

Detalles Bibliográficos
Autores principales: Yamamoto-Shimojima, Keiko, Ono, Hiroaki, Imaizumi, Taichi, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248065/
https://www.ncbi.nlm.nih.gov/pubmed/32509318
http://dx.doi.org/10.1038/s41439-020-0103-5
Descripción
Sumario:Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup, which consist of compound heterozygous involvement with predicted loss-of-function and splicing abnormalities.

Ejemplares similares