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1

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

100%

Skrzypczak U., Rutkiewicz E., Pogorzelski A., Witt M., Zietkiewicz E.

Journal of Applied Genetics

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2007

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vol. 48

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issue 1

85-88

EN

We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.

2

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss

100%

Krawczynski M. R., Dmenska H., Witt M.

Journal of Applied Genetics

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2004

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vol. 45

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issue 1

107-110

EN

Three brothers, one 10-year-old and a pair of 14-year-old dizygotic twins ? expressed the classical, early-onset retinitis pigmentosa (RP) with typical ophthalmoscopic findings, night blindness, visual field constricted to 10o and flat ERG response. All three brothers were also diagnosed with primary ciliary dyskinesia (PCD) and had recurrent respiratory infections, chronic sinusitis and bronchiectasis. In all of them, resection of the middle lobe of the right lung was performed. A similar clinical picture of coexisting RP and PCD was noted in the brother of the probands? mother. All probands displayed situs solitus. Consistent with the X-linked mode of RP inheritance, there were also three obligatory female carriers of the disorder in this family: the mother of the affected boys, her mother and a daughter of her brother. In all of them, retinitis pigmentosa ?sine pigmento? was found with milder but clinically significant symptoms (mild night blindness, visual field constricted to 30o, and scotopic and photopic ERG responses reduced to 30-60%). No extraocular symptoms were detected in any of the heterozygous female carriers. This family presents an example of two rare phenomena: X-linked dominant retinitis pigmentosa (with milder expression in females) and a rare combination of RP with recurrent respiratory infections due to PCD.

3

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

88%

Geremek M., Witt M.

Journal of Applied Genetics

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2004

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vol. 45

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issue 3

347-361

EN

Primary ciliary dyskinesia (PCD) is a multisystem disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male subfertility, associated in about 50% patients with situs inversus totalis (the Kartagener syndrome). The disease phenotype is caused by ultrastructural defects of respiratory cilia and sperm tails. PCD is a heterogenetic disorder, usually inherited as an autosomal recessive trait. So far, mutations in two human genes have been proved to cause the disease. However, the pathogenetics of most PCD cases remains unsolved. In this review, the disease pathomechanism is discussed along with the genes that are or may be involved in the pathogenesis of primary ciliary dyskinesia and the Kartagener syndrome.

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3 Journal of Applied Genetics

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1 Pogorzelski A.

1 Rutkiewicz E.

1 Skrzypczak U.

1 Zietkiewicz E.

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions