<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Connaughton, Dervla M</style></author><author><style face="normal" font="default" size="100%">Kennedy, Claire</style></author><author><style face="normal" font="default" size="100%">Shril, Shirlee</style></author><author><style face="normal" font="default" size="100%">Mann, Nina</style></author><author><style face="normal" font="default" size="100%">Murray, Susan L</style></author><author><style face="normal" font="default" size="100%">Williams, Patrick A</style></author><author><style face="normal" font="default" size="100%">Conlon, Eoin</style></author><author><style face="normal" font="default" size="100%">Nakayama, Makiko</style></author><author><style face="normal" font="default" size="100%">van der Ven, Amelie T</style></author><author><style face="normal" font="default" size="100%">Ityel, Hadas</style></author><author><style face="normal" font="default" size="100%">Kause, Franziska</style></author><author><style face="normal" font="default" size="100%">Kolvenbach, Caroline M</style></author><author><style face="normal" font="default" size="100%">Dai, Rufeng</style></author><author><style face="normal" font="default" size="100%">Vivante, Asaf</style></author><author><style face="normal" font="default" size="100%">Braun, Daniela A</style></author><author><style face="normal" font="default" size="100%">Schneider, Ronen</style></author><author><style face="normal" font="default" size="100%">Kitzler, Thomas M</style></author><author><style face="normal" font="default" size="100%">Moloney, Brona</style></author><author><style face="normal" font="default" size="100%">Moran, Conor P</style></author><author><style face="normal" font="default" size="100%">Smyth, John S</style></author><author><style face="normal" font="default" size="100%">Kennedy, Alan</style></author><author><style face="normal" font="default" size="100%">Benson, Katherine</style></author><author><style face="normal" font="default" size="100%">Stapleton, Caragh</style></author><author><style face="normal" font="default" size="100%">Denton, Mark</style></author><author><style face="normal" font="default" size="100%">Magee, Colm</style></author><author><style face="normal" font="default" size="100%">O'Seaghdha, Conall M</style></author><author><style face="normal" font="default" size="100%">Plant, William D</style></author><author><style face="normal" font="default" size="100%">Griffin, Matthew D</style></author><author><style face="normal" font="default" size="100%">Awan, Atif</style></author><author><style face="normal" font="default" size="100%">Sweeney, Clodagh</style></author><author><style face="normal" font="default" size="100%">Mane, Shrikant M</style></author><author><style face="normal" font="default" size="100%">Lifton, Richard P</style></author><author><style face="normal" font="default" size="100%">Griffin, Brenda</style></author><author><style face="normal" font="default" size="100%">Leavey, Sean</style></author><author><style face="normal" font="default" size="100%">Casserly, Liam</style></author><author><style face="normal" font="default" size="100%">de Freitas, Declan G</style></author><author><style face="normal" font="default" size="100%">Holian, John</style></author><author><style face="normal" font="default" size="100%">Dorman, Anthony</style></author><author><style face="normal" font="default" size="100%">Doyle, Brendan</style></author><author><style face="normal" font="default" size="100%">Lavin, Peter J</style></author><author><style face="normal" font="default" size="100%">Little, Mark A</style></author><author><style face="normal" font="default" size="100%">Conlon, Peter J</style></author><author><style face="normal" font="default" size="100%">Hildebrandt, Friedhelm</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Monogenic causes of chronic kidney disease in adults.</style></title><secondary-title><style face="normal" font="default" size="100%">Kidney Int</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Kidney Int.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2019</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2019 Apr</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">95</style></volume><pages><style face="normal" font="default" size="100%">914-928</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Approximately 500 monogenic causes of chronic kidney disease (CKD) have been identified, mainly in pediatric populations. The frequency of monogenic causes among adults with CKD has been less extensively studied. To determine the likelihood of detecting monogenic causes of CKD in adults presenting to nephrology services in Ireland, we conducted whole exome sequencing (WES) in a multi-centre cohort of 114 families including 138 affected individuals with CKD. Affected adults were recruited from 78 families with a positive family history, 16 families with extra-renal features, and 20 families with neither a family history nor extra-renal features. We detected a pathogenic mutation in a known CKD gene in 42 of 114 families (37%). A monogenic cause was identified in 36% of affected families with a positive family history of CKD, 69% of those with extra-renal features, and only 15% of those without a family history or extra-renal features. There was no difference in the rate of genetic diagnosis in individuals with childhood versus adult onset CKD. Among the 42 families in whom a monogenic cause was identified, WES confirmed the clinical diagnosis in 17 (40%), corrected the clinical diagnosis in 9 (22%), and established a diagnosis for the first time in 16 families referred with CKD of unknown etiology (38%). In this multi-centre study of adults with CKD, a molecular genetic diagnosis was established in over one-third of families. In the evolving era of precision medicine, WES may be an important tool to identify the cause of CKD in adults.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/30773290?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Staretz-Chacham, Orna</style></author><author><style face="normal" font="default" size="100%">Shukrun, Rachel</style></author><author><style face="normal" font="default" size="100%">Barel, Ortal</style></author><author><style face="normal" font="default" size="100%">Pode-Shakked, Ben</style></author><author><style face="normal" font="default" size="100%">Pleniceanu, Oren</style></author><author><style face="normal" font="default" size="100%">Anikster, Yair</style></author><author><style face="normal" font="default" size="100%">Shalva, Nechama</style></author><author><style face="normal" font="default" size="100%">Ferreira, Carlos R</style></author><author><style face="normal" font="default" size="100%">Ben-Haim Kadosh, Admit</style></author><author><style face="normal" font="default" size="100%">Richardson, Justin</style></author><author><style face="normal" font="default" size="100%">Mane, Shrikant M</style></author><author><style face="normal" font="default" size="100%">Hildebrandt, Friedhelm</style></author><author><style face="normal" font="default" size="100%">Vivante, Asaf</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Med Genet A</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am. J. Med. Genet. A</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2019</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2019 Oct</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">179</style></volume><pages><style face="normal" font="default" size="100%">2112-2118</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Generalized arterial calcifications of infancy (GACI) is caused by mutations in ENPP1. Other ENPP1-related phenotypes include pseudoxanthoma elasticum, hypophosphatemic rickets, and Cole disease. We studied four children from two Bedouin consanguineous families who presented with severe clinical phenotype including thrombocytopenia, hypoglycemia, hepatic, and neurologic manifestations. Initial working diagnosis included congenital infection; however, patients remained without a definitive diagnosis despite extensive workup. Consequently, we investigated a potential genetic etiology. Whole exome sequencing (WES) was performed for affected children and their parents. Following the identification of a novel mutation in the ENPP1 gene, we characterized this novel multisystemic presentation and revised relevant imaging studies. Using WES, we identified a novel homozygous mutation (c.556G &gt; C; p.Gly186Arg) in ENPP1 which affects a highly conserved protein domain (somatomedin B2). ENPP1-associated genetic diseases exhibit phenotypic heterogeneity depending on mutation type and location. Follow-up clinical characterization of these families allowed us to revise and detect new features of systemic calcifications, which established the diagnosis of GACI, expanding the phenotypic spectrum associated with ENPP1 mutations. Our findings demonstrate that this novel ENPP1 founder mutation can cause a fatal multisystemic phenotype, mimicking severe congenital infection. This also represents the first reported mutation affecting the SMB2 domain, associated with GACI.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">10</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/31444901?dopt=Abstract</style></custom1></record></records></xml>