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May 13, 2026BMC Medical Genomics0 citationsOpen Access

Novel biallelic variants in HPDL gene linked to hereditary spastic paraplegia and pathogenicity

New insights into HPDL protein: identification of a novel Bi-allelic variant, docking simulation study, and literature review

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Authors

FVFatemeh VaghefiTKTeymoor KhosraviFMFarzaneh Motallebi

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Overview

Analysis identified novel genetic variants associated with hereditary spastic paraplegia, suggesting the importance of genetic testing as a diagnostic tool.

Key Points

  • To identify genetic variants causing hereditary spastic paraplegia in families with consanguinity.
  • Whole-exome sequencing conducted on two Iranian consanguineous families
  • Protein-ligand docking simulations performed using Molegro Virtual Docker
  • Trio-based co-segregation analysis to confirm inheritance of variants
  • Identified two biallelic variants in HPDL: c.3G > C (start-loss) and c.128G > C (novel missense)
  • Trio analysis confirmed variant inheritance
  • Literature review indicated a 49.55% consanguinity rate in families with HPDL variants

Cite This Study

Vaghefi et al. (2026) studied this question.

synapsesocial.com/papers/6a03cbbe1c527af8f1ecf76ehttps://doi.org/10.1186/s12920-026-02389-4
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