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Article

Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.

International journal of molecular sciences - 16 Dec 2024

Failla Pinella, Saccuzzo Lucia, Galesi Ornella, Greco Donatella, Barresi Vincenza, Amata Silvestra, Romano Corrado, Fichera Marco

Abstract excerpt

This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified a novel homozygous missense variant in the ERCC4 gene, which was predicted...

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PMID: 39769235
DOI: 10.3390/ijms252413471

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