Mutación CCDC103: una variante rara como causa de discinesia ciliar primaria

• Autores: A. López Dueñas, F. Olalla Nadal, Alfonso Ortigado Matamala, María José Hernández Bejarano, A. Aldea Romero, O. de la Serna Blázquez
• Localización: Revista española de pediatría: clínica e investigación, ISSN 0034-947X, Vol. 73, Nº. 6, 2017, págs. 361-364
• Idioma: español
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• Resumen

  • Introduction. Primary ciliary dyskinesia (DCP) englobes a set of diseases in which the microscopic cells in the respiratory and gonadal system do not function normally. This dys-function is produced by immotile cilia, abnormal movement oi^ less frequent, absence of cilia at all. This ciliary dysfunction produces the different clinic manifestations, such as: chronic sinusitis, bronchiectasis and sometimes infertility in men. It usually follows autosomal recessive genetic inheritance. The genes responsible of this disorder are actually being identified. Patient. We present a case of DCP asociated to sirus inversus, in wich the diagnosis was established with genetic study. This is a singular case, because the diagnosis was done sooner than the medium age (2 years and 9 months old), it was also suspected in the neonatal period and the low prevalence of this variant. Results. Exome sequencing identified a homozygous mis- sense variant in CCDC103 (C.461A>C, p.H154P). This is a rare variant which only occurs in approximately 0.1% of european population.