TENM1 – Cerebral Palsy

Whole-exome sequencing of 183 cases of cerebral palsy identified a hemizygous missense variant, c.3143C>T (p.Thr1048Met), in TENM1 in one male proband, supporting its candidacy as an X-linked recessive contributor to disease (PMID:25666757). No additional unrelated cases, familial segregation, or CP-specific functional data have been reported.

Overall, the gene–disease association is classified as Limited based on a single proband with no replication or segregation. Genetic evidence is Limited, and no functional evidence has been reported for TENM1 in cerebral palsy. Key take-home: TENM1 remains a candidate gene requiring further replication and mechanistic studies to establish its role in cerebral palsy.

References

• Molecular psychiatry • 2015 • Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. PMID:25666757

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