#610852
Table of Contents
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-6 (CILD6) is caused by compound heterozygous mutation in the TXNDC3 gene (NME8; 607421) on chromosome 7p14. One such patient has been reported.
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Duriez et al. (2007) reported a 13-year-old girl with primary ciliary dyskinesia. She had chronic respiratory infections with bronchiectasis, chronic sinusitis, and serous otitis. She also had situs ambiguus with the heart and the liver located centrally. Electron microscopy showed that 66% of her respiratory cilia had shortened or absent outer dynein arms. The authors reported a unrelated patient who also had chronic respiratory infections with bronchiectasis, chronic sinusitis, and serous otitis, but he had situs inversus totalis. Electron microscopy of his respiratory cilia showed no ultrastructural defect of the respiratory cilia, but 40% were immotile.
In a girl with primary ciliary dyskinesia, Duriez et al. (2007) identified 2 variants in the TXNDC3 gene: one was a pathogenic mutation (607421.0001) and the other a single-nucleotide polymorphism (SNP) at a splice site (607421.0002), which was shown to affect alternative splicing of the gene. Each unaffected parent was heterozygous for one of the TXNDC3 variants. Duriez et al. (2007) emphasized the unusual molecular mechanism underlying this mendelian autosomal recessive disorder, which is a SNP-induced modification of the ratio of 2 functional isoforms generated by alternative splicing. An unrelated patient was heterozygous for the splice site variant, which was of undetermined significance.
Duriez, B., Duquesnoy, P., Escudier, E., Bridoux, A.-M., Escalier, D., Rayet, I., Marcos, E., Vojtek, A.-M., Bercher, J.-F., Amselem, S. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc. Nat. Acad. Sci. 104: 3336-3341, 2007. Note: Erratum: Proc. Nat. Acad. Sci. 104: 6490 only, 2007. [PubMed: 17360648, images, related citations] [Full Text]
ORPHA: 244; DO: 0110606; MONDO: 0012571;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 7p14.1 | ?Ciliary dyskinesia, primary, 6 | 610852 | Autosomal recessive | 3 | NME8 | 607421 |
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-6 (CILD6) is caused by compound heterozygous mutation in the TXNDC3 gene (NME8; 607421) on chromosome 7p14. One such patient has been reported.
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Duriez et al. (2007) reported a 13-year-old girl with primary ciliary dyskinesia. She had chronic respiratory infections with bronchiectasis, chronic sinusitis, and serous otitis. She also had situs ambiguus with the heart and the liver located centrally. Electron microscopy showed that 66% of her respiratory cilia had shortened or absent outer dynein arms. The authors reported a unrelated patient who also had chronic respiratory infections with bronchiectasis, chronic sinusitis, and serous otitis, but he had situs inversus totalis. Electron microscopy of his respiratory cilia showed no ultrastructural defect of the respiratory cilia, but 40% were immotile.
In a girl with primary ciliary dyskinesia, Duriez et al. (2007) identified 2 variants in the TXNDC3 gene: one was a pathogenic mutation (607421.0001) and the other a single-nucleotide polymorphism (SNP) at a splice site (607421.0002), which was shown to affect alternative splicing of the gene. Each unaffected parent was heterozygous for one of the TXNDC3 variants. Duriez et al. (2007) emphasized the unusual molecular mechanism underlying this mendelian autosomal recessive disorder, which is a SNP-induced modification of the ratio of 2 functional isoforms generated by alternative splicing. An unrelated patient was heterozygous for the splice site variant, which was of undetermined significance.
Duriez, B., Duquesnoy, P., Escudier, E., Bridoux, A.-M., Escalier, D., Rayet, I., Marcos, E., Vojtek, A.-M., Bercher, J.-F., Amselem, S. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc. Nat. Acad. Sci. 104: 3336-3341, 2007. Note: Erratum: Proc. Nat. Acad. Sci. 104: 6490 only, 2007. [PubMed: 17360648] [Full Text: https://doi.org/10.1073/pnas.0611405104]
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM