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New SKOR2 Mutations Linked to Neurodevelopmental Disorders Identified

9/1/2025

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Summary

Story summary

SKOR2 is essential for Purkinje cell development in the central nervous system.
Two Iranian families with nine affected patients showed learning disabilities and motor impairments due to novel SKOR2 mutations.
Whole exome sequencing identified these mutations, revealing a new syndrome with neurodevelopmental delay and ataxia.
The findings improve understanding of SKOR2-related disorders and aid in genetic counseling.

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Story summary

SKOR2 is essential for Purkinje cell development in the central nervous system.
Two Iranian families with nine affected patients showed learning disabilities and motor impairments due to novel SKOR2 mutations.
Whole exome sequencing identified these mutations, revealing a new syndrome with neurodevelopmental delay and ataxia.
The findings improve understanding of SKOR2-related disorders and aid in genetic counseling.