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Case Reports
. 2019 Feb 26;19(1):32.
doi: 10.1186/s12883-019-1263-0.

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

Mengxin Bao  1   2 , Fei Mao  1 , Zhangning Zhao  1 , Gaoting Ma  1 , Guangjun Xu  2 , Wenjuan Xu  1 , Huan Chen  3 , Meijia Zhu  4
Affiliations
Case Reports

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

Mengxin Bao et al. BMC Neurol. .

Abstract

Background: 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).

Case presentation: 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.

Conclusions: Hematuria in Bethlem myopathy can be caused by COL6 mutations, which may be related to the aberrant connection between collagen VI and collagen IV.

Keywords: Bethlem myopathy; COL6A1; Collagen IV; Collagen VI; Hematuria; Muscle dystrophy.

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Conflict of interest statement

Ethics approval and consent to participate

The institutional review board of Qianfoshan hospital affiliated to Shandong University approved the study.

Consent for publication

Written informed consent was obtained from the parents of the patient for publication of this case report and accompanying muscle biopsy images and mutation results.

Competing interests

The authors declare that they have no competing interests.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Muscular pathological findings (bar = 100 μm). a & b. H&E stain (a) and MGT stain (b): fibrosis, adipose tissue infiltration, rounding of muscle fibers, increased variability of fiber diameter, myonecrosis, and few regenerating fibers were seen. c. ORO stain: predominant adipose tissue infiltration was observed. d & e. ATPase stain(d: pH = 4.3, E: pH = 10.4): type-I and type-II fibers were affected equally with fiber type grouping. f. NADH stain: Disorganization of myofibril arrangement was noted on NADH stain
Fig. 2
Fig. 2
a. Arrow indicates the proband. b. Next-generation sequencing of whole-exome sequences revealed a de novo heterozygous G-to-A nucleotide substitution at position 877 in exon 10 of the COL6A1 gene. c & d. The same mutation was not detected in his parents
See this image and copyright information in PMC

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