Primary ciliary dyskinesia in Amish communities.
Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite consanguinity, affected individuals had evidence of genetic heterogeneity.
Lie
Hauw
H
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
Zariwala
Maimoona A
MA
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
Helms
Cynthia
C
Department of Genetics, Washington University School of Medicine, St. Louis, MO.
Bowcock
Anne M
AM
Department of Genetics, Washington University School of Medicine, St. Louis, MO.
Carson
John L
JL
Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
Brown
David E
DE
Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
Hazucha
Milan J
MJ
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
Forsen
James
J
Department of Otolaryngology, Washington University School of Medicine, St. Louis, MO.
Molter
David
D
Department of Otolaryngology, Washington University School of Medicine, St. Louis, MO.
Knowles
Michael R
MR
Department of Medicine, University of North Carolina, Chapel Hill, NC.
Leigh
Margaret W
MW
Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
Ferkol
Thomas W
TW
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO. Electronic address: ferkol_t@kids.wustl.edu.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002835:Christianity; D002923:Cilia / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000453:epidemiology* / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009079:Mucociliary Clearance / Q000235:genetics; D010375:Pedigree; D055815:Young Adult