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Journal of Pediatric Neurology 2020; 18(04): 210-213
DOI: 10.1055/s-0039-1698437
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype

Yohei Harada‡   *
1   Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States
,
Seth T. Sorensen‡   *
2   Division of Psychology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States
,
Akilandeswari Aravindhan
3   Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States
,
Vikki Stefans
4   Departments of Pediatrics and Physical Medicine and Rehabilitation, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States
,
Aravindhan Veerapandiyan
3   Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States
› Author Affiliations Funding V.S. received honoraria for consulting with Sarepta about exon skipping for DMD. A.V. has served in the advisory boards for Biogen and Avexis. Other authors have no relevant disclosures.
Further Information

Publication History

18 August 2019

06 September 2019

Publication Date:
30 September 2019 (online)

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Abstract

Dystrophinopathies are a group of X-linked neuromuscular disorders resulting from mutations in DMD gene that encodes dystrophin. The clinical spectrum includes Duchenne muscular dystrophy, Becker muscular dystrophy, X-linked cardiomyopathy, and intellectual disability without involvement of skeletal muscle. Cognitive and behavioral problems are commonly seen among patients with dystrophinopathy. DMD gene is the largest human gene, consisting of 79 exons that produce dystrophin protein. Patients with genetic changes involving shorter dystrophin isoforms such as Dp140 and Dp71 are suggested to have higher rates of intellectual disability, attention-deficit/hyperactivity disorder, and other neuropsychiatric comorbidities. We describe three brothers who presented with prominent neurobehavioral deficits of varying degree, mild proximal weakness, and elevated serum creatine kinase due to a rare nonsense mutation, c.1702C > T; p.Gln568X, in exon 14 of DMD gene. Further studies are needed to better understand the effects of this rare mutation.

Keywords

DMD - Duchenne - Becker - mutation - muscular dystrophy
 

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