TY - JOUR
T1 - Movement
AU - Ferkol, Thomas
N1 - Publisher Copyright:
© 2017
PY - 2017/9
Y1 - 2017/9
N2 - Primary ciliary dyskinesia is an inherited disease characterized by impaired ciliary function leading to diverse clinical manifestations, including chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and infertility. Our understanding of the complex genetics and functional phenotypes of primary ciliary dyskinesia has rapidly grown, and over 35 disease-associated genes have been identified, which segregate into genes that encode axonemal motor proteins, regulatory proteins within the cilium, and cytoplasmic proteins involved in ciliary assembly. These findings have yielded unexpected insights into the clinical heterogeneity of disease and are beginning to revolutionize diagnostic testing for primary ciliary dyskinesia.
AB - Primary ciliary dyskinesia is an inherited disease characterized by impaired ciliary function leading to diverse clinical manifestations, including chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and infertility. Our understanding of the complex genetics and functional phenotypes of primary ciliary dyskinesia has rapidly grown, and over 35 disease-associated genes have been identified, which segregate into genes that encode axonemal motor proteins, regulatory proteins within the cilium, and cytoplasmic proteins involved in ciliary assembly. These findings have yielded unexpected insights into the clinical heterogeneity of disease and are beginning to revolutionize diagnostic testing for primary ciliary dyskinesia.
KW - Diagnosis
KW - Primary ciliary dyskinesia
UR - http://www.scopus.com/inward/record.url?scp=85021732167&partnerID=8YFLogxK
U2 - 10.1016/j.prrv.2017.06.005
DO - 10.1016/j.prrv.2017.06.005
M3 - Review article
C2 - 28687245
AN - SCOPUS:85021732167
SN - 1526-0542
VL - 24
SP - 19
EP - 20
JO - Paediatric Respiratory Reviews
JF - Paediatric Respiratory Reviews
ER -