Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia

Gershoni‐Baruch, Ruth; Gottfried, Emanuel; Pery, M; Sahin, Abdala

doi:10.1002/ajmg.1320330320

Cited by 58 publications

(22 citation statements)

References 21 publications

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“…Among PCD patients, there have been reports of heterotaxy (14), which refers to discordant organ situs in the abdominal and thoracic cavities. Heterotaxy results from indeterminate patterning of the left-right axis.…”

Section: Introductionmentioning

confidence: 99%

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

Tan¹,

Rosenthal²,

Zhao³

et al. 2007

J. Clin. Invest.

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Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder associated with ciliary defects and situs inversus totalis, the complete mirror image reversal of internal organ situs (positioning). A variable incidence of heterotaxy, or irregular organ situs, also has been reported in PCD patients, but it is not known whether this is elicited by the PCD-causing genetic lesion. We studied a mouse model of PCD with a recessive mutation in Dnahc5, a dynein gene commonly mutated in PCD. Analysis of homozygous mutant embryos from 18 litters yielded 25% with normal organ situs, 35% with situs inversus totalis, and 40% with heterotaxy. Embryos with heterotaxy had complex structural heart defects that included discordant atrioventricular and ventricular outflow situs and atrial/pulmonary isomerisms. Variable combinations of a distinct set of cardiovascular anomalies were observed, including superior-inferior ventricles, great artery alignment defects, and interrupted inferior vena cava with azygos continuation. The surprisingly high incidence of heterotaxy led us to evaluate the diagnosis of PCD. PCD was confirmed by EM, which revealed missing outer dynein arms in the respiratory cilia. Ciliary dyskinesia was observed by videomicroscopy. These findings show that Dnahc5 is required for the specification of left-right asymmetry and suggest that the PCD-causing Dnahc5 mutation may also be associated with heterotaxy.

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Section: Introductionmentioning

confidence: 99%

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

Tan¹,

Rosenthal²,

Zhao³

et al. 2007

J. Clin. Invest.

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“…Several mutations are known to be associated with primary ciliary dyskinesia in genes encoding dynein proteins, including DNAI1 [6][7][8], DNAH5 [9] and DNAH11 [10]. The history of consanguinity in our patient's parents increases her risk of acquiring this autosomal recessive disease [11,12].…”

Section: Commentmentioning

confidence: 84%

A Middle-Aged Woman with Recurrent Respiratory Infections

Chmura

Chan

Noone³

et al. 2005

Respiration

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“…In these two cases, patients presented bilious vomiting and mechanical ileus [45,46]. All these rare clinical manifestations of PCD represent the result of a single dysmorphogenic process involving the middle structures of embryo and are connected to situs inversus pathogenesis [47].…”

Section: Clinical Aspects Of Pcdmentioning

confidence: 95%

Transmission Electron Microscopy in the Diagnosis of Primary Ciliary Dyskinesia

Roomans¹,

Ivanovs²,

Shebani³

et al. 2006

Upsala Journal of Medical Sciences

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Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with extensive genetic heterogeneity. Dyskinetic or completely absent motility of cilia predisposes to recurrent pulmonary and upper respiratory tract infections resulting in bronchiectasis. Also infections of the middle ear are common due to lack of ciliary movement in the Eustachian tube. Men have reduced fertility due to spermatozoa with absent motility or abnormalities in the ductuli efferentes. Female subfertility and tendency to ectopic pregnancy has also been suggested. Headache, a common complaint in PCD patients, has been associated with absence of cilia in the brain ventricles, leading to decreased circulation of the cerebrospinal fluid. Finally, half of the patients with PCD has situs inversus, probably due to the absence of ciliary motility in Hensen's node in the embryo, which is responsible for the unidirectional flow of fluid on the back of the embryo, which determines sidedness. PCD, which is an inborn disease, should be distinguished from secondary ciliary dyskinesia (SCD) which is an acquired disease. Transmission electron microscopy is the most commonly used method for diagnosis of PCD, even though alternative methods, such as determination of ciliary motility and measurement of exhaled nitric oxide (NO) may be considered. The best method to distinguish PCD from SCD is the determination

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Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia

Cited by 58 publications

References 21 publications

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

A Middle-Aged Woman with Recurrent Respiratory Infections

Transmission Electron Microscopy in the Diagnosis of Primary Ciliary Dyskinesia

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