A novel mutation in the PMPCB gene associated with multiple mitochondrial dysfunction syndrome 6 and literature review

  • 武宇辉,张涛,杨燕澜,等
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  • PICU, Shenzhen Children’s Hospital, Shenzhen 518038, Guangdong, China

Online published: 2020-08-11

Abstract

 Objectives To investigate the clinical and PMPCB genetic mutation features of multiple mitochondrial dysfunctions syndrome 6 (MMDS6). Methods The clinical data of a case with MMDS6 were retrospectively analyzed and related literature was reviewed. Results A 5-months-old boy presented with poor weight gain and feeding difficulty, delayed motor development and hypotonia, with lactic acidosis and heart failure. Echocardiography showed pulmonary hypertension. A homozygous nucleotide variation of c.524G>A in PMPCB gene was found through whole-exome and mitochondrial genome sequencing analysis, which has not been reported before in literature and both parents were heterozygotes. Conclusion The homozygous nucleotide variation c.524G>A in PMPCB gene was pathogenic variants for MMDS6. Next-generation sequencing may provide diagnosis for the disease.

Cite this article

武宇辉,张涛,杨燕澜,等 . A novel mutation in the PMPCB gene associated with multiple mitochondrial dysfunction syndrome 6 and literature review[J]. Journal of Clinical Pediatrics, 2020 , 38(8) : 582 . DOI: 10.3969/j.issn.1000-3606.2020.08.006

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