Mutación CCDC103una variante rara como causa de discinesia ciliar primaria

  1. A. López Dueñas
  2. F. Olalla Nadal
  3. Alfonso Ortigado Matamala
  4. M. José Hernández Bejarano
  5. A. Aldea Romero
  6. O. de la Serna Blázquez
Journal:
Revista española de pediatría: clínica e investigación

ISSN: 0034-947X

Year of publication: 2017

Volume: 73

Issue: 6

Pages: 361-364

Type: Article

SCOPUS: 2-s2.0-85044718998 DIALNET GOOGLE SCHOLAR

More publications in: Revista española de pediatría: clínica e investigación

Abstract

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.

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