Variant of uncertain significance in the DNAI1 gene in a child with typical primary ciliary dyskinesia phenotype

Nuñez-Paucar H.; Gutiérrez-Iparraguirre G.; Atamari-Anahui N.; Purizaca-Rosillo N.; Valera-Moreno C.; Torres-Salas J.; Medina-Sanabria G. · Boletin Medico del Hospital Infantil de Mexico (2025) · DOI: 10.24875/bmhim.24000182

Resumen

Background: Primary ciliary dyskinesia is an autosomal recessive heterogeneous genetic disorder characterized by dysfunction of ciliary motility. Variants of uncertain significance have been reported in patients with a phenotype compatible with primary ciliary dyskinesia. Clinical case: A 15-year-old male adolescent with a history of respiratory infections and recurrent bronchial obstructive symptoms since the neonatal period. Radiological studies showed atelectasis, paranasal sinus alterations, and bronchiectasis. Ciliary ultrastructure showed the absence of the central microtubule pair, the external and internal dynein arms, and microtubular disorganization. The genetic panel reported a genetic variant of uncertain significance in the DNAI1 gene (NM_012144.4): c.1489+5G>A. He was treated with antibiotic therapy, nebulizations with hypertonic saline solution, and respiratory physiotherapy with good evolution during follow-up. Conclusions: It is important to report a variant of uncertain significance in the DNAI1 gene in a patient with a clinical phenotype and class 1 findings in ciliary electron microscopy compatible with primary ciliary dyskinesia, to contribute to the reclassification of variants.

Instituciones: Universidad San Ignacio de Loyola