AUTHOR=Diaz-Lombana Natalia , Diaz-Ordoñez Lorena , Gutierrez-Medina Juan David , Pachajoa Harry 

TITLE=Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

JOURNAL=Frontiers in Genetics

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1158350

DOI=10.3389/fgene.2023.1158350

ISSN=1664-8021

ABSTRACT=Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by hypotonia and muscle weakness from the first months of life, cerebral white matter abnormalities and elevated CPK levels. We describe an 8-year-old girl from Colombia with clinical features compatible with CMD1A, severe scoliosis corrected with surgery and feeding difficulty corrected with a gastrostomy. Whole exome sequencing identified two heterozygous variants: a reported nonsense mutation (LAMA2 NM_000426.3:c.4198C>T) and a novel probably pathogenic variant (LAMA2 NM_000426.3:c.9227_9243dup). This is the first genetically confirmed case of CMD1A in Colombia and the first report of the c.9227_9243dup mutation causing CMD1A.