High genetic heterogeneity in consanguineous Turkish families with autosomal recessive peripheral neuropathies

Takeaway

  • A cohort study of consanguineous Turkish families identifies two novel candidate disease-causing genes in autosomal recessive peripheral neuropathy.

Why this matters

  • Charcot-Marie-Tooth is the most common inherited peripheral neuropathy; the autosomal recessive form is usually more severe than the dominant form, although the genetic reasons for this are unknown. This novel study in a Turkish autosomal recessive Charcot-Marie-Tooth population reveals additional candidate genes that could further elucidate disease pathogenesis and provide a reference for genetic diagnosis strategies in similar populations. The observed genetic heterogeneity supports the use of whole-exome sequencing rather than single gene screening in populations with high consanguinity rate.