Diagnosis of a case of homozygous constitutional MMR‑deficiency by the use of a gene‑panel in a non-consanguineous family: A case report

  • Authors:
    • Ming Xu
    • Hongsheng He
    • Zengqiang Yang
    • Peng Luo
    • Qing Wang
    • Feng Gao
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  • Published online on: December 20, 2019     https://doi.org/10.3892/br.2019.1268
  • Pages: 134-138
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Abstract

Constitutional MMR‑deficiency syndrome (CMMRD) is a rare but severe hereditary syndrome of pediatric cancer caused by bi‑allelic pathogenic variants in one of the mismatch DNA repair genes (MMR): MLH1, MSH2, MSH6, and PMS2. This syndrome occurs when patients inherit altered alleles from both of their heterozygote parents affected by Lynch syndrome. In total, ~150 patients have been identified at present, the majority of which were Caucasian. The present case report described the diagnosis of CMMRD in a Chinese boy with atypical clinical features caused by a homozygous pathogenic variant in MSH6 gene, identified by the use of a gene‑panel. This is the first case diagnosed in a Chinese (Asian) population. These data indicated that CMMRD affects patients of any ethnic origin, implying a potentially high prevalence. Notably, the homozygous bi‑allelic inactivation was caused by a random event in an apparently closed population, as opposed to a consanguineous marriage, additionally suggesting a high risk of CMMRD for individuals living in relatively closed populations.
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March 2020
Volume 12 Issue 3

Print ISSN: 2049-9434
Online ISSN:2049-9442

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APA
Xu, M., He, H., Yang, Z., Luo, P., Wang, Q., & Gao, F. (2020). Diagnosis of a case of homozygous constitutional MMR‑deficiency by the use of a gene‑panel in a non-consanguineous family: A case report. Biomedical Reports, 12, 134-138. https://doi.org/10.3892/br.2019.1268
MLA
Xu, M., He, H., Yang, Z., Luo, P., Wang, Q., Gao, F."Diagnosis of a case of homozygous constitutional MMR‑deficiency by the use of a gene‑panel in a non-consanguineous family: A case report". Biomedical Reports 12.3 (2020): 134-138.
Chicago
Xu, M., He, H., Yang, Z., Luo, P., Wang, Q., Gao, F."Diagnosis of a case of homozygous constitutional MMR‑deficiency by the use of a gene‑panel in a non-consanguineous family: A case report". Biomedical Reports 12, no. 3 (2020): 134-138. https://doi.org/10.3892/br.2019.1268