Genetic basis of Charcot-Marie-Tooth disease in Pakistani consanguineous families - Takeaways - MDSpire
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Investigating the Genetic Factors of Charcot-Marie-Tooth Disease in Consanguineous Families from Pakistan

  • By

  • Zafar Ali

  • Muhammad Jameel

  • Joakim Klar

  • Muhammad Suleman

  • Uswah Batool

  • Hammad Yousaf

  • Farhan Ali

  • Ambrin Fatima

  • Shahid Mahmood Baig

  • Niklas Dahl

  • Mathais Toft

  • Uzma Abdullah

  • Zafar Iqbal

  • September 10, 2026

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  • 1

    Charcot-Marie-Tooth (CMT) disease is a prevalent inherited neuromuscular disorder characterized by muscle weakness and atrophy.

  • 2

    The study involved five consanguineous Pakistani families with 14 affected individuals exhibiting severe CMT symptoms.

  • 3

    Whole exome sequencing identified four homozygous missense variants in GDAP1 and one in SBF2 across the studied families.

  • 4

    Molecular modeling indicated that the identified variants destabilize the GDAP1 and SBF2 protein structures.

  • 5

    The findings expand the genetic spectrum of CMT and highlight the utility of whole exome sequencing for diagnosis.

Original Source(s)

Genetic basis of Charcot-Marie-Tooth disease in Pakistani consanguineous families

  • by Zafar Ali, Muhammad Jameel, Joakim Klar, Muhammad Suleman, Uswah Batool, Hammad Yousaf, Farhan Ali, Ambrin Fatima, Shahid Mahmood Baig, Niklas Dahl, Mathais Toft, Uzma Abdullah, Zafar Iqbal

  • September 10, 2026

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