Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy

Frontiers in Genetics
Jing ZhouZhengfeng Xu

Abstract

Merosin-deficient CMD type 1A (MDC1A), caused by mutations of laminin subunit alpha 2 (LAMA2), is a predominant subtype of congenital muscular dystrophy (CMD). Herein, we described a Chinese patient with MDC1A who was admitted to hospital 17 days after birth because of marasmus and feeding difficulties. Mutations were identified by targeted capture and next generation sequencing (NGS) and further confirmed by Sanger sequencing. Paternity was confirmed by short tandem repeat analysis. Physical examination showed malnutrition, poor suck and appendicular hypotonia. Her serum CK levels were 2483 and 1962 U/L at 2 and 4 months of age, respectively. Brain magnetic resonance imaging performed at 1 month of age presented hyperintensity on T2-weighted images, T1-weighted images in parietal and occipital lobes, and diffusion-weighted image (DWI) as well as hypointensity on fluid attenuated inversion recovery (FLAIR) image; however, the cerebellum and corpus arenaceum were normal. At 7 months of age, delayed developmental milestones were observed, and she failed to turn her body over and raise her head up. A point mutation (c.1782+2T > G) and a frameshift duplication (c.8217dupT) in the LAMA2 gene were identified by targeted capture and N...Continue Reading

References

Feb 19, 2000·Microscopy Research and Technique·Y Miyagoe-SuzukiS Takeda
Jun 8, 2000·Developmental Dynamics : an Official Publication of the American Association of Anatomists·H Colognato, P D Yurchenco
Jul 30, 2011·Skeletal Muscle·Kinga I Gawlik, Madeleine Durbeej
Nov 14, 2013·Experimental and Therapeutic Medicine·Zhanwen HeMeng Zhe
Nov 14, 2014·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Michael J MenezesHolly Colognato
Oct 10, 2015·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Michelle M SimonPaul K Potter
Dec 10, 2016·Neuromuscular Disorders : NMD·Elizabeth HarrisVolker Straub

❮ Previous
Next ❯

Citations

Oct 26, 2018·Fetal and Pediatric Pathology·Erdem FadilogluMehmet Sinan Beksac

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy

Software Mentioned

CRYP
SKIP

Related Concepts

Related Feeds

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

© 2022 Meta ULC. All rights reserved