期刊
NEUROMUSCULAR DISORDERS
卷 28, 期 12, 页码 1012-1015出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2018.08.010
关键词
CMT; IGHMBP2 gene; Target multigene panel; Next generation sequencing; SMARD1
资金
- Wellcome Trust [110043/Z/15/Z]
- Medical Research Council (MRC), MRC Centre grant [G0601943]
- National Institutes of Neurological Diseases and Stroke [U54NS065712]
- NCATS Rare Diseases Clinical Research Network (RDCRN) [U54NS065712]
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- Brazilian National Council for Scientific and Technological Development (CNPq)
- office of Rare Diseases [U54NS065712]
- Wellcome Trust [110043/Z/15/Z] Funding Source: Wellcome Trust
- MRC [G0601943] Funding Source: UKRI
Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARDI) and CMT2S. We describe a patient who developed progressive muscle weakness and wasting in her upper and lower limbs from infancy. She developed respiratory involvement at age 9, eventually requiring 24-h non-invasive ventilation, and severe autonomic dysfunction restricted to the gastrointestinal tract. Neurophysiological studies at age 27 years revealed absent sensory and motor responses and severe chronic denervation changes in proximal muscles of the upper limbs. Targeted multigene panel sequencing detected a novel homozygous missense variant in the IGHMBP2 gene (c.1325A > G; p.Tyr442Cys). This variant was validated by Sanger sequencing and co-segregation analysis confirmed that both parents were asymptomatic heterozygous carriers. This case report confirms that IGHMBP2 related disorders can result in a severe peripheral neuropathy with gastrointestinal autonomic dysfunction requiring parenteral nutrition. (C) 2018 The Authors. Published by Elsevier B.V.
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