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=14

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=<p>Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the <italic>LAMA2</italic> gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter abnormalities, and elevated creatine phosphokinase (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 variant (<italic>LAMA2</italic> NM_000426.3:c.4198C&gt;T) and a novel likely pathogenic variant (<italic>LAMA2</italic> 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 variant causing CMD1A.</p>