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Erschienen in: Indian Journal of Pediatrics 7/2019

14.05.2019 | Scientific Letter

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia

verfasst von: Antony Terance Benjamin, Ram Ganesh, Balan Louis Gaspar, Jane Lucas, Claire Jackson, Marie Legendre, Rahma Mani, Estelle Escudier

Erschienen in: Indian Journal of Pediatrics | Ausgabe 7/2019

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Excerpt

To the Editor: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder that disrupts the structure and function of motile cilia thereby resulting in impaired muco-ciliary clearance. In PCD, cilia are immotile or dyskinetic. Clinical phenotype includes term neonate with respiratory distress, early onset persistent wet cough, purulent nasal discharge, otitis media and later, bronchiectasis and fertility issues. Around one-half of PCD patients have situs inversus. In a patient with typical phenotype, the diagnosis of PCD is made using a combination of tests [1]. We report for the first time a novel loss of function HYDIN gene mutation in two siblings with PCD. …
Literatur
1.
Zurück zum Zitat Lucas JS, Barbato A, Collins SA, et al. European respiratory society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49:1601090.CrossRefPubMedPubMedCentral Lucas JS, Barbato A, Collins SA, et al. European respiratory society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49:1601090.CrossRefPubMedPubMedCentral
2.
3.
Zurück zum Zitat Paff T, Kooi IE, Moutaouakil Y, et al. Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. Hum Mutat. 2018;39:653–65.CrossRefPubMed Paff T, Kooi IE, Moutaouakil Y, et al. Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. Hum Mutat. 2018;39:653–65.CrossRefPubMed
4.
Zurück zum Zitat Olbrich H, Schmidts M, Werner C, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet. 2012;91:672–84.CrossRefPubMedPubMedCentral Olbrich H, Schmidts M, Werner C, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet. 2012;91:672–84.CrossRefPubMedPubMedCentral
5.
Zurück zum Zitat Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188:913–22.CrossRefPubMedPubMedCentral Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188:913–22.CrossRefPubMedPubMedCentral
Metadaten
Titel
A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia
verfasst von
Antony Terance Benjamin
Ram Ganesh
Balan Louis Gaspar
Jane Lucas
Claire Jackson
Marie Legendre
Rahma Mani
Estelle Escudier
Publikationsdatum
14.05.2019
Verlag
Springer India
Erschienen in
Indian Journal of Pediatrics / Ausgabe 7/2019
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-019-02970-z

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