Evidencia de transmisión autosómica dominante a través de la línea materna en un caso de discinesia ciliar primaria

Abstract

An atypical case of primary ciliary dyskinesia is presented in which the inheritance, rather than the classical autosomal recessive, appears to be transmitted as an autosomal dominant trait through the maternal line. The case involves two brothers of 29 and 30 years of age, married without children, with a history of infertility, frequent episodes of sinusitis, and recurrent pulmonary infections. Their mother and sister have chronic bronchopathy of unknown etiology. Their father is healthy without pulmonary problems or sinusitis. At physical exam, both brothers, sister and mother presented with bronchial rhonchi at lung auscultation. Blood analysis and pulmonary function, liver and renal tests were all normal. The ultraestructual study of the sperm flagellum by electron microscopy revealed that both brothers have the same anomaly. Namely, in the majority of the cross-sections, both dynein arms are missing. The nexin filament was present, as well as the radial spokes and the central pair of microtubules. In some sperm, besides the absence of dynein arms, there was also absence of the central pair of microtubules. Neither anomalies of the fibrous sheath nor of the dense fibers were found. In approximately 50% of the spermatozoa, the midpiece had a decreased number of mitochondria and extra non-aligned mitochondria. Other findings included extra peripheral microtubules in the axoneme.

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

“…Primary ciliary dyskinesia (PCD; MIM #244400) is a genetically heterogeneous ciliopathy inherited in an autosomal-recessive fashion [Bush et al, 2007 ], although there have been a few instances where PCD has been reported to follow an autosomal-dominant inheritance pattern [Narayan et al, 1994 ; Alvarez Gonzalez et al, 2006 ]. PCD is a rare (∼one in 20,000) disorder associated with abnormal (respiratory) ciliary structure and/or function, abnormal sperm motility (and therefore infertility or later subfertility), and/or situs abnormalities [Zariwala et al, 1993 ].…”