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In clinical manifestations, <jats:italic>DNAH5<\/jats:italic> (NM_001361.3) is one of the recessive pathogenic genes. Primary familial brain calcification (PFBC) is a neurodegenerative disease characterized by bilateral calcification in the basal ganglia and other brain regions. PFBC can be inherited in an autosomal dominant or recessive manner. A family with PCD caused by a <jats:italic>DNAH5<\/jats:italic> compound heterozygous variant and PFBC caused by a <jats:italic>MYORG<\/jats:italic> homozygous variant was analyzed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In this study, we recruited three generations of Han families with primary ciliary dyskinesia combined with primary familial brain calcification. Their clinical phenotype data were collected, next-generation sequencing was performed to screen suspected pathogenic mutations in the proband and segregation analysis of families was carried out by Sanger sequencing. The mutant and wild-type plasmids were constructed and transfected into HEK293T cells instantaneously, and splicing patterns were detected by Minigene splicing assay. The structure and function of mutations were analyzed by bioinformatics analysis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The clinical phenotypes of the proband (II10) and his sister (II8) were bronchiectasis, recurrent pulmonary infection, multiple symmetric calcifications of bilateral globus pallidus and cerebellar dentate nucleus, paranasal sinusitis in the whole group, and electron microscopy of bronchial mucosa showed that the ciliary axoneme was defective. There was also total visceral inversion in II10 but not in II8. A novel splice variant C.13,338\u2009+\u20095G\u2009&gt;\u2009C and a frameshift variant C.4314delT (p. Asn1438lysfs *10) were found in the <jats:italic>DNAH5<\/jats:italic> gene in proband (II10) and II8. c.347_348dupCTGGCCTTCCGC homozygous insertion variation was found in the <jats:italic>MYORG<\/jats:italic> of the proband. The two pathogenic genes were co-segregated in the family. Minigene showed that <jats:italic>DNAH5<\/jats:italic> c.13,338\u2009+\u20095G\u2009&gt;\u2009C has two abnormal splicing modes: One is that part of the intron bases where the mutation site located is translated, resulting in early translation termination of <jats:italic>DNAH5<\/jats:italic>; The other is the mutation resulting in the deletion of exon76.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The newly identified <jats:italic>DNAH5<\/jats:italic> splicing mutation c.13,338\u2009+\u20095G\u2009&gt;\u2009C is involved in the pathogenesis of PCD in the family, and forms a compound heterozygote with the pathogenic variant <jats:italic>DNAH5<\/jats:italic> c.4314delT lead to the pathogenesis of PCD.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12890-024-03164-w","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T08:01:44Z","timestamp":1721116904000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel splicing mutation DNAH5 c.13,338\u2009+\u20095G\u2009&gt;\u2009C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification"],"prefix":"10.1186","volume":"24","author":[{"given":"Xiu-juan","family":"Yao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-ping","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan-dan","family":"Ruan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shi-jie","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-sheng","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-fu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhu-ting","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-wei","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bao-song","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,16]]},"reference":[{"issue":"3","key":"3164_CR1","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1016\/j.ccm.2016.04.008","volume":"37","author":"MR Knowles","year":"2016","unstructured":"Knowles MR, Zariwala M, Leigh M. 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