2012
DOI: 10.1177/0883073811429856
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Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

Abstract: We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia-associated aqueductal stenosis should be considered as a possible cause f… Show more

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Cited by 43 publications
(21 citation statements)
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“…Cases of primary ciliary dyskinesia-associated hydrocephalus in humans have previously been reported, although the causative mutations have not been identified. 3,6,10,14,21,31,37,39 We observed a pathogenic CNV involving DNAH14 in only one family in the present study, although it is possible that techniques such as next-generation sequencing would identify other hydrocephalus-associated mutant genes in these patients, including those in Family 1. CNV involving DNAH14 had been reported in DGV (Fig.…”
Section: Discussionmentioning
confidence: 58%
“…Cases of primary ciliary dyskinesia-associated hydrocephalus in humans have previously been reported, although the causative mutations have not been identified. 3,6,10,14,21,31,37,39 We observed a pathogenic CNV involving DNAH14 in only one family in the present study, although it is possible that techniques such as next-generation sequencing would identify other hydrocephalus-associated mutant genes in these patients, including those in Family 1. CNV involving DNAH14 had been reported in DGV (Fig.…”
Section: Discussionmentioning
confidence: 58%
“…ACCEPTED MANUSCRIPT 34 cilia-promoted CSF streaming along ependyma; this hydrocephalus, confirmed by sonographic marking (Wessels et al, 2003), is associated with aqueductal stenosis (Vieira et al, 2012)). The insertionally-mutated axonemal dynein heavy chain gene in mice (Mdnah5) also occurs in humans (DNAH5) with PCD (Ibanez-Tallon et al, 2002).…”
Section: Accepted Manuscriptmentioning
confidence: 96%
“…Several additional syndromes are associated with hydrocephalus, including the mucopolysaccharidoses [87], Sotos syndrome [87], Peter's Plus syndrome [88] , primary ciliary dyskinesia [89, 90], Gorlin syndrome [91], and Rothmund-Thomson syndrome [92]. In addition to these single-gene disorders, many cytogenetic abnormalities have been linked to hydrocephalus, including microdeletion 9q22.3 [93], partial trisomy 1 [94], deletion 6q26q27 [95, 96], terminal duplication of 7q [97], as well as Trisomy 13, 18, 21 and triploidy [2].…”
Section: Hydrocephalus Accompanied By Other Physical Features (Table 2)mentioning
confidence: 99%