02531nas a2200373   4500008004100000022001400041245010000055210006900155260001600224490000700240520133200247653003101579653001701610653002001627653001101647653000901658653001301667653002501680100002301705700002801728700003101756700002501787700002101812700001601833700002101849700002501870700002101895700001901916700001601935700002701951700002901978700001902007856013102026       2024                        eng d  a2073-440900aPrimary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel  Variant and Possible Modifier Gene.0 aPrimary Ciliary Dyskinesia and Retinitis Pigmentosa Novel Varian  c2024 Mar 160 v133 a<p>We report a novel  missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the  variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia. The pathogenicity of the variant on the RPGR protein was evaluated by in vitro studies transiently transfecting the mutated  gene, and immunofluorescence analysis on nasal brushing samples. Whole-exome sequencing was conducted to identify potential modifier variants. In vitro studies showed that the mutated RPGR protein could not localise to the cilium and impaired cilium formation. Accordingly, RPGR was abnormally distributed in the siblings' nasal brushing samples. In addition, a missense variant in  was identified. The concurrent  variant influenced ciliary mislocalisation of the protein. We provide a comprehensive characterisation of motile cilia in this XLRP family, with only the proband presenting PCD symptoms. The variant's pathogenicity was confirmed, although it alone does not explain the respiratory symptoms. Finally, the  gene may be a potential modifier for respiratory symptoms in patients with  mutations.</p>10aCiliary Motility Disorders10aEye Proteins10aGenes, Modifier10aHumans10aMale10amutation10aRetinitis pigmentosa1 aBaz-Redón, Noelia1 aSánchez-Bellver, Laura1 aFernández-Cancio, Mónica1 aRovira-Amigo, Sandra1 aBurgoyne, Thomas1 aRanjit, Rai1 aAquino, Virginia1 aToro-Barrios, Noemí1 aCarmona, Rosario1 aPolverino, Eva1 aCols, Maria1 aMoreno-Galdó, Antonio1 aCamats-Tarruella, Núria1 aMarfany, Gemma  uhttp://clinbioinfosspa.es/content/primary-ciliary-dyskinesia-and-retinitis-pigmentosa-novel-variant-and-possible-modifier-gene03518nas a2200553   4500008004100000022001400041245007400055210006900129260001300198300001000211490000700221520170300228100002701931700002001958700003101978700002802009700003002037700002502067700001702092700002702109700003202136700002602168700002602194700003502220700003102255700001702286700003102303700003002334700003302364700003302397700003502430700003302465700002502498700003102523700002602554700002502580700002002605700002302625700002302648700002102671700002902692700003102721700002002752700002002772700002102792700002702813710002202840856010202862       2022                        eng d  a1579-212900aIncidence and Prevalence of Children's Diffuse Lung Disease in Spain.0 aIncidence and Prevalence of Childrens Diffuse Lung Disease in Sp  c2022 Jan  a22-290 v583 a<p><b>BACKGROUND: </b>Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are very complex. Epidemiological data are scarce. The aim of this study was to analyse incidence and prevalence of chILD in Spain.</p><p><b>METHODS: </b>Multicentre observational prospective study in patients from 0 to 18 years of age with chILD to analyse its incidence and prevalence in Spain, based on data reported in 2018 and 2019.</p><p><b>RESULTS: </b>A total of 381 cases with chILD were notified from 51 paediatric pulmonology units all over Spain, covering the 91.7% of the paediatric population. The average incidence of chILD was 8.18 (CI 95% 6.28-10.48) new cases/million of children per year. The average prevalence of chILD was 46.53 (CI 95% 41.81-51.62) cases/million of children. The age group with the highest prevalence were children under 1 year of age. Different types of disorders were seen in children 2-18 years of age compared with children 0-2 years of age. Most frequent cases were: primary pulmonary interstitial glycogenosis in neonates (17/65), neuroendocrine cell hyperplasia of infancy in infants from 1 to 12 months (44/144), idiopathic pulmonary haemosiderosis in children from 1 to 5 years old (13/74), hypersensitivity pneumonitis in children from 5 to 10 years old (9/51), and scleroderma in older than 10 years old (8/47).</p><p><b>CONCLUSIONS: </b>We found a higher incidence and prevalence of chILD than previously described probably due to greater understanding and increased clinician awareness of these rare diseases.</p>1 aTorrent-Vernetta, Alba1 aGaboli, Mirella1 aCastillo-Corullón, Silvia1 aMondéjar-López, Pedro1 aSantiago, Verónica, Sanz1 aCosta-Colomer, Jordi1 aOsona, Borja1 aTorres-Borrego, Javier1 ade la Serna-Blázquez, Olga1 aAlonso, Sara, Bellón1 aAguilera, Pilar, Caro1 ade Atauri, Álvaro, Gimeno-Dí1 aSoria, Alfredo, Valenzuela1 aAyats, Roser1 ade Vicente, Carlos, Martin1 aGonzález, Valle, Velasco1 aGonzález, José, Domingo Mo1 aCalderín, Elisa, María Can1 aPastor-Vivero, María, Dolores1 aÁlvarez, María, Ángeles V1 aRovira-Amigo, Sandra1 aSerrano, Ignacio, Iglesias1 aIzquierdo, Ana, Díez1 aMessa, Inés, de Mir1 aGartner, Silvia1 aNavarro, Alexandra1 aBaz-Redón, Noelia1 aCarmona, Rosario1 aCamats-Tarruella, Núria1 aFernández-Cancio, Mónica1 aRapp, Christina1 aDopazo, Joaquin1 aGriese, Matthias1 aMoreno-Galdó, Antonio1 aChILD-Spain Group  uhttp://clinbioinfosspa.es/content/incidence-and-prevalence-childrens-diffuse-lung-disease-spain-0