A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia

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dc.contributor.authorMani, Rahmaen_US
dc.contributor.authorBouguila, Jihe`Neen_US
dc.contributor.authorSalma Ben Ameuren_US
dc.contributor.authorHachicha, Mongiaen_US
dc.contributor.authorSoua, Zohraen_US
dc.contributor.authorMabrouk, Imeden_US
dc.date.accessioned2020-11-18T10:21:10Z
dc.date.available2020-11-18T10:21:10Z
dc.date.issued2020-01
dc.description.abstractPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease caused by the structural abnormalities and dysfunction of motile cilia. The DNAH5 is the most frequently mutated gene in PCD patients and hot spot exons were reported in this gene. Here, we aim to screen mutations in a set of five hot spot exons of DNAH5 gene in a cohort of 10 clinically diagnosed Tunisian PCD patients using an optimized polymerase chain reaction-single-strand conformational polymorphism screening technique. Only one patient harboured a novel heterozygous variant in exon 63 (c.10767A[G), which was inherited from his father. This variant activates a cryptic splicing site. No deleterious mutation has been identified while screening the exons of the remaining patients. Our results show that the reported hot spot exons of DNAH5 gene are not mutated in Tunisian PCD patients. This is probably due to the differences of ethnical background of the previously reported patients. Further investigations should be performed to identify the mutations underlying PCD in this group of patients.en_US
dc.identifier.affiliationsFaculte´ de Me´decine de Sousse, Unite´ de recherche ‘Biologie Mole´culaire des Leuce´mies et Lymphomes’, UR14ES19, Universite´ de Sousse, Sousse 4002, Tunisiaen_US
dc.identifier.affiliationsService de Pe´diatrie, Centre Hospitalier Universitaire Farhat Hached, Sousse 4002, Tunisiaen_US
dc.identifier.affiliationsService de Pe´diatrie, Centre Hospitalier Universitaire Hedi Chaker, Sfax 3089, Tunisiaen_US
dc.identifier.affiliationsFaculte´ de Me´decine de Sousse, Unite´ de recherche ‘Biologie Mole´culaire des Leuce´mies et Lymphomes’, UR14ES19, Universite´ de Sousse, Sousse 4002, Tunisiaen_US
dc.identifier.affiliationsFaculte´ de Me´decine de Sousse, Unite´ de recherche ‘Biologie Mole´culaire des Leuce´mies et Lymphomes’, UR14ES19, Universite´ de Sousse, Sousse 4002, Tunisiaen_US
dc.identifier.citationMani Rahma, Bouguila Jihe`Ne, Salma Ben Ameur, Hachicha Mongia, Soua Zohra, Mabrouk Imed. A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia. Journal of Genetics. 2020 Jan; 99: 1-5en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215560
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume99en_US
dc.source.urihttps://doi.org/10.1007/s12041-019-1168-0en_US
dc.subjectprimary ciliary dyskinesiaen_US
dc.subjectDNAH5 geneen_US
dc.subjecthot spoten_US
dc.subjectsplicingen_US
dc.subjectsingle-strand conformation polymorphismen_US
dc.subjectscreeningen_US
dc.titleA novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesiaen_US
dc.typeJournal Articleen_US
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