LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects
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چکیده
منابع مشابه
LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects
Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrations, and absent dynein arms. Linkage analyses revealed a single common homozygous region on chrom...
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Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by recurrent infections of the airways and randomization of left/right body asymmetry. The phenotype results from dysfunction of motile cilia of the respiratory epithelium and the embryonic node. Dysmotile sperm tails often cause infertility in male PCD patients. Underlying ultrastructural defects frequently ...
متن کاملDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
RATIONALE Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left-right body asymmetry. To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm components. METHODS We screened 109 white PCD families originating from Europe and North America for pre...
متن کاملInner dynein arm defects causing primary ciliary dyskinesia: repeat testing required.
Primary ciliary dyskinesia (PCD) results in chronic nasal symptoms and chest disease leading to bronchiectasis. We noted a number of patients referred for diagnostic testing whose initial results suggested PCD due to an inner dynein arm or radial spoke defect but in whom no abnormality was found on retesting. The present study was an audit of all patients referred for PCD diagnostic testing ove...
متن کاملZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections and male infertility. Using whole-exome resequencing and high-throughput mutation analysis, we identified recessive biallelic mutations in ZMYND10 in 14 families and mutations in the recently identified LRRC6 in 13 families. We show that ZMYND10 and LRRC6 interact and that certain Z...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2013
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0059436