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A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A

Lookup NU author(s): Dr Sabine Specht, Dr Jennifer Duff, Dr Richard Charlton, Dr Tuomo Polvikoski, Dr Rita Barresi, Dr Ana Topf, Professor Volker Straub

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Abstract

© 2021 Elsevier B.V.Recessive mutations in the LAMA2 gene lead to congenital muscular dystrophy type 1A and limb girdle muscular dystrophy R23 with complete or partial laminin α2 chain deficiency. Complete laminin α2 chain deficiency presents with early onset of severe hypotonia and generalized weakness, whereas partial deficiency shows a milder and more variable course with limb girdle weakness. Here, we report a child with mildly delayed motor development, elevated serum creatine kinase levels (>1000 U/l) and brain white matter hypointensity, indicative of laminin α2 chain deficiency. In addition to a stop gain variant in exon 39, the patient was found to carry an intronic insertion of 72 bp in intron 38 of the LAMA2 gene in trans. RNA analysis revealed that this insertion results in abnormally spliced as well as wild type transcript, which explains the partial laminin α2 chain deficiency observed in the muscle biopsy.


Publication metadata

Author(s): Specht S, Duff J, Charlton R, Polvikoski T, Barresi R, Topf A, Straub V

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2021

Pages: epub ahead of print

Online publication date: 31/03/2021

Acceptance date: 24/03/2021

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd

URL: https://doi.org/10.1016/j.nmd.2021.03.009

DOI: 10.1016/j.nmd.2021.03.009


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