@article{5cd3b173d4ef4d628ff02d241a1d4c49,
title = "Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)",
abstract = "Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-years old girl with EMARDD following identification of a novel homozygous deletion of exon 7 in MEGF10. In contrast to previously reported EMARDD patients, her weakness was more prominent proximally than distally, and involved her legs more than her arms. MRI of her pelvis and thighs showed muscle atrophy and fatty replacement. Ultrasound of several muscle groups revealed dense homogenous increases in echogenicity. Cloning and sequencing of the deletion breakpoint identified features suggesting the mutation arose by fork stalling and template switching. These findings constitute the first genomic deletion causing EMARDD, expand the clinical phenotype, and provide new insight into the pattern and histology of its muscular pathology.",
keywords = "Deletion analysis, EMARDD, Exome sequencing, MEGF10, Myopathy, SNP array",
author = "Pierson, {Tyler Mark} and Thomas Markello and John Accardi and Lynne Wolfe and David Adams and Murat Sincan and Tarazi, {Noor M.} and Fajardo, {Karin Fuentes} and Cherukuri, {Praveen F.} and Ilda Bajraktari and Meilleur, {Katy G.} and Sandra Donkervoort and Mina Jain and Ying Hu and Lehky, {Tanya J.} and Pedro Cruz and Mullikin, {James C.} and Carsten Bonnemann and Gahl, {William A.} and Boerkoel, {Cornelius F.} and Tifft, {Cynthia J.}",
note = "Funding Information: We are grateful to Shannon McNeil, Ronald Austin, Jose Salas, and Cheryl Hipple for excellent administrative assistance; Joy Bryant, Barrington Burnett, Roxanne Fischer, Chevalia Robinson, Gretchen Golas, and Camilo Toro for clinical and technical assistance and critical analysis. We would especially thank the family of our patient for the loving care for their children and cooperation with our work. During this work TMP, DA, TM, KFF, CFB, and CT were supported by the NIH Undiagnosed Diseases Program ; TM, GG, MS, NFH, PFC, PC, JKT, JCM, and WAG were supported by The Intramural Research Program of the National Human Genome Research Institute of the National Institutes of Health . CGB, SD, YH, IB, and KM were supported by The Intramural Research Program of the National Institute of Neurological Disorders and Stroke of the National Institutes of Health . TMP was also supported by The Diana and Steve Marienhoff Fashion Industries Guild Endowed Fellowship in Pediatric Neuromuscular Diseases. Appendix A ",
year = "2013",
month = jun,
doi = "10.1016/j.nmd.2013.01.013",
language = "English (US)",
volume = "23",
pages = "483--488",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Ltd",
number = "6",
}