#614679
Table of Contents
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-17 (CILD17) is caused by homozygous mutation in the CCDC103 gene (614677) on chromosome 17q21.
Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Panizzi et al. (2012) reported 10 patients from 6 families with primary ciliary dyskinesia. Five of the families were consanguineous and of Pakistani origin, and 1 was nonconsanguineous and of German origin. Four of the Pakistani families had previously been reported by O'Callaghan et al. (2010) and resided in the U.K. The patients had classic features of the disorder, including recurrent upper and lower respiratory infections, sinusitis, bronchiectasis, and variable dextrocardia or situs inversus. Electron microscopy showed variable defects in the inner and outer dynein arms of cilia that differed even with a family. Videomicroscopy showed either complete cilia paralysis, reduced beat amplitude, or loss of beat coordination.
The transmission pattern of CILD17 in the families reported by Panizzi et al. (2012) was consistent with autosomal recessive inheritance.
By whole-genome linkage analysis of 4 consanguineous Pakistani families with CILD and absent outer and inner dynein arms, Panizzi et al. (2012) identified a locus on chromosome 17q12-q22 (maximum lod score of 4.8). The candidate region spanned 14 cM.
In 10 patients from 6 families with CILD17, Panizzi et al. (2012) identified 1 of 2 homozygous mutations in the CCDC103 gene: 383delG (614677.0001) or H154P (614677.0002).
O'Callaghan, C., Chetcuti, P., Moya, E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch. Dis. Child 95: 51-52, 2010. [PubMed: 19720631, related citations] [Full Text]
Panizzi, J. R., Becker-Heck, A., Castleman, V. H., Al-Mutairi, D. A., Liu, Y., Loges, N. T., Pathak, N., Austin-Tse, C., Sheridan, E., Schmidts, M., Olbrich, H., Werner, C. and 15 others: CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nature Genet. 44: 714-719, 2012. [PubMed: 22581229, images, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 244; DO: 0110621;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q21.31 | Ciliary dyskinesia, primary, 17 | 614679 | Autosomal recessive | 3 | CCDC103 | 614677 |
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-17 (CILD17) is caused by homozygous mutation in the CCDC103 gene (614677) on chromosome 17q21.
Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Panizzi et al. (2012) reported 10 patients from 6 families with primary ciliary dyskinesia. Five of the families were consanguineous and of Pakistani origin, and 1 was nonconsanguineous and of German origin. Four of the Pakistani families had previously been reported by O'Callaghan et al. (2010) and resided in the U.K. The patients had classic features of the disorder, including recurrent upper and lower respiratory infections, sinusitis, bronchiectasis, and variable dextrocardia or situs inversus. Electron microscopy showed variable defects in the inner and outer dynein arms of cilia that differed even with a family. Videomicroscopy showed either complete cilia paralysis, reduced beat amplitude, or loss of beat coordination.
The transmission pattern of CILD17 in the families reported by Panizzi et al. (2012) was consistent with autosomal recessive inheritance.
By whole-genome linkage analysis of 4 consanguineous Pakistani families with CILD and absent outer and inner dynein arms, Panizzi et al. (2012) identified a locus on chromosome 17q12-q22 (maximum lod score of 4.8). The candidate region spanned 14 cM.
In 10 patients from 6 families with CILD17, Panizzi et al. (2012) identified 1 of 2 homozygous mutations in the CCDC103 gene: 383delG (614677.0001) or H154P (614677.0002).
O'Callaghan, C., Chetcuti, P., Moya, E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch. Dis. Child 95: 51-52, 2010. [PubMed: 19720631] [Full Text: https://doi.org/10.1136/adc.2009.158493]
Panizzi, J. R., Becker-Heck, A., Castleman, V. H., Al-Mutairi, D. A., Liu, Y., Loges, N. T., Pathak, N., Austin-Tse, C., Sheridan, E., Schmidts, M., Olbrich, H., Werner, C. and 15 others: CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nature Genet. 44: 714-719, 2012. [PubMed: 22581229] [Full Text: https://doi.org/10.1038/ng.2277]
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