1994
DOI: 10.1136/jmg.31.6.493
|View full text |Cite
|
Sign up to set email alerts
|

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).

Abstract: Primary ciliary dyskinesia syndrome is characterised by chronic sinusitis, bronchiectasis, and, in 50% of cases, dextrocardia. It is generally believed to be inherited as an autosomal recessive disorder. In this report, we describe a family consisting of a mother and her five male children, the offspring of three different fathers, all of whom have this syndrome. This argues for either an X linked or autosomal dominant pattern of inheritance. Cytogenetic and FISH (fluorescent in situ hybridisation) analyses we… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1

Citation Types

0
51
0
3

Year Published

1999
1999
2015
2015

Publication Types

Select...
10

Relationship

0
10

Authors

Journals

citations
Cited by 105 publications
(54 citation statements)
references
References 13 publications
0
51
0
3
Order By: Relevance
“…It is usually inherited in an autosomal recessive pattern [1]; however, it has also been shown to be inherited in an X-linked or autosomal fashion [44]. PCD occurs somewhere around 1:15,000-30,000 live births.…”
Section: Discussionmentioning
confidence: 99%
“…It is usually inherited in an autosomal recessive pattern [1]; however, it has also been shown to be inherited in an X-linked or autosomal fashion [44]. PCD occurs somewhere around 1:15,000-30,000 live births.…”
Section: Discussionmentioning
confidence: 99%
“…In addition mutations in the two genes, radial spoke head 9 homologue (RSPH9) and 4 homologue A (RSPH4A), have been reported in PCD patients with abnormalities of the central microtubular pair [22]. In a minority of cases, other inheritance patterns have been recognised [23]. Furthermore, X-linked recessive retinitis pigmentosa, sensory hearing deficits and PCD have been associated with mutations in the retinitis pigmentosa guanosine triphosphatase regulator gene (RPGR), essential for photoreceptor maintenance and viability [24][25][26][27][28][29][30].…”
Section: Genetics and Inheritancementioning
confidence: 99%
“…A limited number of these disorders have been characterised in humans and some domestic animals. For example, axonemal defects can result in poor or absent sperm motility and associated infertility (as in primary ciliary dyskinesia; Afzelius 1976;Narayan et al 1994), deafness (if the disorder affects the auditory hair cells, as in Usher's syndrome; Smith et al 1994;Well et al 1995), blindness (if the defect involves the modified ciliated cells (photoreceptor cells) of the retina, as in retinitis pigmentosa; Hunter et al 1988;Humphries et al 1992), chronic respiratory disease (if the defect involves ciliated cells of the respiratory tract, as in primary ciliary dyskinesia; Blouin et al 2000) or some combination of these problems. Large-scale mutagenesis experiments have been performed on axonemal proteins in green algae and, thus, in this organism, many axonemal protein defects have been shown to result in flagellar immotility (Luck et al 1977;Dutcher 1995).…”
Section: To Get Somewhere Fast You Need a Motor: The Axonemementioning
confidence: 99%