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Background <p>CMT2X and EE are autosomal recessive neurogenetic disorders caused by mutations in SPG11 and ETHE1, respectively. Families with known carrier status, especially with consanguinity, require targeted prenatal evaluation.</p> Case Presentation <p>A 20-year-old gravida 3 para 1 living 1 abortion 1 woman in a second-degree consanguineous marriage presented for routine antenatal care. Both partners were carriers of SPG11 and ETHE1 mutations and had one child affected with EE. Prenatal Sanger sequencing at 16-week 6-day period of gestation revealed a homozygous pathogenic SPG11 variant (CMT2X) and heterozygous ETHE1 variant (carrier state).</p> Conclusion <p>This case highlights the importance of prenatal genetic diagnosis in high-risk couples, supporting informed counselling and reproductive decision-making in pregnancies at risk for severe autosomal recessive neurogenetic disorders.</p>

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Prenatal Diagnosis of Charcot–Marie–Tooth Disease in a Foetus with Prenatal Carrier Status for Ethylmalonic Encephalopathy

  • 期刊论文

  • 发表日期：

    2025年11月28日

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  • Pavithra Shetty,
  • Manorama Eti,
  • B. M. Rupakala

摘要

Background

CMT2X and EE are autosomal recessive neurogenetic disorders caused by mutations in SPG11 and ETHE1, respectively. Families with known carrier status, especially with consanguinity, require targeted prenatal evaluation.

Case Presentation

A 20-year-old gravida 3 para 1 living 1 abortion 1 woman in a second-degree consanguineous marriage presented for routine antenatal care. Both partners were carriers of SPG11 and ETHE1 mutations and had one child affected with EE. Prenatal Sanger sequencing at 16-week 6-day period of gestation revealed a homozygous pathogenic SPG11 variant (CMT2X) and heterozygous ETHE1 variant (carrier state).

Conclusion

This case highlights the importance of prenatal genetic diagnosis in high-risk couples, supporting informed counselling and reproductive decision-making in pregnancies at risk for severe autosomal recessive neurogenetic disorders.