COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

BMC Neurology
Mengxin BaoMeijia Zhu

Abstract

Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable to mutations in the COL6A1, COL6A2, and COL6A3 genes. However, no case of collagen VI mutations with hematuria has been reported. We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). The patient was a 14-year-old boy presenting with muscle weakness from 3 years of age without any family history. Six months before admission, he developed recurrent gross hematuria, three bouts in total, with the presence of blood clots in the urine. Next-generation sequencing of his whole-exome was performed. The result of sequencing revealed a de novo heterozygous G-to-A nucleotide substitution at position 877 in exon 10 of the COL6A1 gene. After treatment, the hematuria healed, but the muscle weakness failed to improve. Hematuria in Bethlem myopathy can be caused by COL6 mutations, which may be related to the aberrant connection between collagen VI and collagen IV.

References

Jan 1, 1989·Virchows Archiv. A, Pathological Anatomy and Histopathology·A OomuraM Isemura
May 1, 1994·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·D ZhuS M Mauer
Oct 23, 1997·The Journal of Biological Chemistry·H J KuoR W Glanville
Oct 27, 2010·Annals of Neurology·Laura BriñasValérie Allamand
Jun 22, 2011·Nature Reviews. Neurology·Carsten G Bönnemann
Jan 21, 2014·Advances in Experimental Medicine and Biology·Kate M D BushbyDebbie Hicks
Jan 31, 2015·Journal of Medical Genetics·Jong Hee ChaeSi Houn Hahn
Sep 18, 2015·Journal of Cell Science·Matilde CesconPaolo Bonaldo
Feb 7, 2017·F1000Research·Clifford Kashtan
Aug 24, 2017·Journal of Clinical Neurology·Jung Hwan LeeYoung Chul Choi

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