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Article

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Annals of clinical and translational neurology - 1 Feb 2025

Zubair Umar, Yang Kathryn, Schierbaum Luca, Tam Amy, Battaglia Nicole, Rong Joshua, Quiroz Vicente, Ebrahimi-Fakhari Darius

Abstract excerpt

Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.1319del,...

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PMID: 39807687
DOI: 10.1002/acn3.52293
PMCID: PMC11822794

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