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

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

Journal of Applied Genetics

2004

vol. 45

issue 1

107-110

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.

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

100%

Kabzinska D., Sinkiewicz-Darol E., Hausmanowa-Petrusewicz I., Kochanski A.

Journal of Applied Genetics

2010

vol. 51

issue 2

203-209

Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations

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2 Journal of Applied Genetics

1 2010

1 2004

1 Dmenska H.

1 Hausmanowa-Petrusewicz I.

1 Kabzinska D.

1 Kochanski A.

1 Krawczynski M. R.

1 Sinkiewicz-Darol E.

1 Witt M.

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

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment