• Mutations In Col6A3 Cause Severe And Mild Phenotypes Of Ullrich Congenital Muscular Dystrophy 

      Demir, E; Sabatelli, P; Allamand, V; Ferreiro, A; Moghadaszadeh, B; Makrelouf, M; Topaloglu, H; Echenne, B; Merlini, L; Guicheney, P (Univ Chicago Press, 2002)
      Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound ...
    • Mutations In Cspp1 Cause Primary Cilia Abnormalities And Joubert Syndrome With Or Without Jeune Asphyxiating Thoracic Dystrophy 

      Tuz, Karma; Bachmann-Gagescu, Ruxandra; O'Day, Diana R.; Hua, Kiet; Isabella, Christine R.; Phelps, Ian G.; Stolarski, Allan E.; O'Roak, Brian J.; Dempsey, Jennifer C.; Lourenco, Charles; Alswaid, Abdulrahman; Boennemann, Carsten G.; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J.; Topcu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E.; Glass, Ian A.; Shendure, Jay; Neuhauss, Stephan C. F.; Haldeman-Englert, Chad R.; Doherty, Dan; Ferland, Russell J. (Cell Press, 2014)
      Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 ...
    • Mutations In Emp2 Cause Childhood-Onset Nephrotic Syndrome 

      Gee, Heon Yung; Ashraf, Shazia; Wan, Xiaoyang; Vega-Warner, Virginia; Esteve-Rudd, Julian; Lovric, Svjetlana; Fang, Humphrey; Hurd, Toby W.; Sadowski, Carolin E.; Allen, Susan J.; Otto, Edgar A.; Korkmaz, Emine; Washburn, Joseph; Levy, Shawn; Williams, David S.; Bakkaloglu, Sevcan A.; Zolotnitskaya, Anna; Ozaltin, Fatih; Zhou, Weibin; Hildebrandt, Friedhelm (Cell Press, 2014)
      Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative ...
    • Mutations In Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis 

      Lefevre, C; Bouadjar, B; Karaduman, A; Jobard, F; Saker, S; Ozguc, M; Lathrop, M; Prud'homme, JF; Fischer, J (Oxford Univ Press, 2004)
      We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ...
    • Mutations In Ig Alpha (Cd79A) Result In In B-Cell Development 

      Minegishi, Y; Coustan-Smith, E; Rapalus, L; Ersoy, F; Campana, D; Conley, ME (Amer Soc Clinical Investigation Inc, 1999)
      Mutations in Btk, mu heavy chain, or the surrogate light chain account for 85-90% of patients with early onset hypogammaglobulinemia and absent B cells. The nature of the defect in the remaining patients is unknown. We ...
    • Mutations In Keops-Complex Genes Cause Nephrotic Syndrome With Primary Microcephaly 

      Braun, Daniela A.; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A.; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F. P.; Hoogstraten, Charlotte A.; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaelle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I. Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F.; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Bjorn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E.; Pabst, Werner L.; Warejko, Jillian K.; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D.; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T.; Gaffney, Patrick M.; Gipson, Patrick E.; Hsu, Chyong-Hsin; Kari, Jameela A.; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R.; Rump, Patrick; Schnur, Rhonda E.; Shiihara, Takashi; Sinha, Manish D.; Soliman, Neveen A.; Soulami, Kenza; Sweetser, David A.; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H.; Vatanavicharn, Nithiwat; Waxler, Jessica L.; Wierenga, Klaas J.; Wolf, Matthias T. F.; Wong, Sik-Nin; Leidel, Sebastian A.; Truglio, Gessica; Dedon, Peter C.; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P.; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm (Nature Publishing Group, 2017)
      Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in ...
    • Mutations In Klhl40 Are A Frequent Cause Of Severe Autosomal-Recessive Nemaline Myopathy 

      Ravenscroft, Gianina; Miyatake, Satoko; Lehtokari, Vilma-Lotta; Todd, Emily J.; Vomauen, Pauliina; Yau, Kyle S.; Hayashi, Yukiko K.; Miyake, Noriko; Tsurusaki, Yoshinori; Doi, Hiroshi; Saitsu, Hirotomo; Osaka, Hitoshi; Yamashita, Sumimasa; Ohya, Takashi; Sakamoto, Yuko; Koshimizu, Eriko; Imamura, Shintaro; Yamashita, Michiaki; Ogata, Kazuhiro; Shiina, Masaaki; Bryson-Richardson, Robert J.; Vaz, Raquel; Ceyhan, Ozge; Brownstein, Catherine A.; Swanson, Lindsay C.; Monnot, Sophie; Romero, Norma B.; Amthor, Helge; Kresoje, Nina; Sivadorai, Padma; Kiraly-Borri, Cathy; Haliloglu, Goknur; Talim, Beril; Orhan, Diclehan; Kale, Gulsev; Charles, Adrian K.; Fabian, Victoria A.; Davis, Mark R.; Lammens, Martin; Sewry, Caroline A.; Manzur, Adnan; Muntoni, Francesco; Clarke, Nigel F.; North, Kathryn N.; Bertini, Enrico; Nevo, Yoram; Willichowski, Eldthard; Silberg, Inger E.; Topaloglu, Haluk; Beggs, Alan H.; Allcock, Richard J. N.; Nishino, Ichizo; Wallgren-Pettersson, Carina; Matsumoto, Naomichi; laing, Nigel G. (Cell Press, 2013)
      Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort ...
    • Mutations In Nuclear Pore Genes Nup93, Nup205 And Xpo5 Cause Steroid-Resistant Nephrotic Syndrome 

      Braun, Daniela A; Sadowski, Carolin E; Kohl, Stefan; Lovric, Svjetlana; Astrinidis, Susanne A; Pabst, Werner L; Gee, Heon Yung; Ashraf, Shazia; Lawson, Jennifer A; Shril, Shirlee; Airik, Merlin; Tan, Weizhen; Schapiro, David; Rao, Jia; Choi, Won-Il; Hermle, Tobias; Kemper, Markus J; Pohl, Martin; Ozaltin, Fatih; Konrad, Martin; Bogdanovic, Radovan; Büscher, Rainer; Helmchen, Udo; Serdaroglu, Erkin; Lifton, Richard P; Antonin, Wolfram; Hildebrandt, Friedhelm (2016)
    • Mutations In Plce1 Are A Major Cause Of Isolated Diffuse Mesangial Sclerosis (Idms) 

      Gbadegesin, Rasheed; Hinkes, Bernward G.; Hoskins, Bethan E.; Vlangos, Christopher N.; Heeringa, Saskia F.; Liu, Jinhong; Loirat, Chantal; Ozaltin, Fatih; Hashmi, Seema; Ulmer, Francis; Cleper, Roxanna; Ettenger, Robert; Antignac, Corinne; Wiggins, Roger C.; Zenker, Martin; Hildebrandt, Friedhelm (Oxford Univ Press, 2008)
      Background and objectives. Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides ...
    • Mutations In Pnkp Cause Microcephaly, Seizures And Defects In Dna Repair 

      Shen, Jun; Gilmore, Edward C.; Marshall, Christine A.; Haddadin, Mary; Reynolds, John J.; Eyaid, Wafaa; Bodell, Adria; Allen, Kathryn; Chang, Bernard S.; Grix, Arthur; Hill, R. Sean; Topcu, Meral; Caldecott, Keith W.; Barkovich, A. James; Walsh, Christopher A. (2010)
    • Mutations In Ripk4 Cause The Autosomal-Recessive Form Of Popliteal Pterygium Syndrome 

      Kalay, Ersan; Sezgin, Orhan; Chellappa, Vasant; Mutlu, Mehmet; Morsy, Heba; Kayserili, Hulya; Kreiger, Elmar; Cansu, Aysegul; Toraman, Bayram; Abdalla, Ebtesam Mohammed; Aslan, Yakup; Pillai, Shiv; Akarsu, Nurten A. (Cell Press, 2012)
      The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital ...
    • Mutations In Signal Recognition Particle Srp54 Cause Syndromic Neutropenia With Shwachman-Diamond-Like Features 

      Carapito, Raphael; Konantz, Martina; Paillard, Catherine; Miao, Zhichao; Pichot, Angelique; Leduc, Magalie S.; Yang, Yaping; Bergstrom, Katie L.; Mahoney, Donald H.; Shardy, Deborah L.; Alsaleh, Ghada; Naegely, Lydie; Kolmer, Aline; Paul, Nicodeme; Hanauer, Antoine; Rolli, Veronique; Mueller, Joelle S.; Alghisi, Elisa; Sauteur, Loic; Macquin, Cecile; Morlon, Aurore; Sancho, Consuelo Sebastia; Amati-Bonneau, Patrizia; Procaccio, Vincent; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Osmani, Nael; Lefebvre, Olivier; Goetz, Jacky G.; Unal, Sule; Akarsu, Nurten A.; Radosavljevic, Mirjana; Chenard, Marie-Pierre; Rialland, Fanny; Grain, Audrey; Bene, Marie-Christine; Eveillard, Marion; Vincent, Marie; Guy, Julien; Faivre, Laurence; Thauvin-Robinet, Christel; Thevenon, Julien; Myers, Kasiani; Fleming, Mark D.; Shimamura, Akiko; Bottollier-Lemallaz, Elodie; Westhof, Eric; Lengerke, Claudia; Isidor, Bertrand; Bahram, Seiamak (Amer Soc Clinical Investigation Inc, 2017)
      Shwachman-Diamond syndrome (SDS) (OMIM # 260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent ...
    • Mutations In Slc34A2 Cause Pulmonary Alveolar Microlithiasis And Are Possibly Associated With Testicular Microlithiasis 

      Corut, Ayse; Senyigit, Abdurrahman; Ugur, Sibel Aylin; Altin, Sedat; Ozcelik, Ugur; Calisir, Haluk; Yildirim, Zeki; Gocmen, Ayhan; Tolun, Aslihan (Cell Press, 2006)
      Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, ...
    • Mutations In Stat3 And Diagnostic Guidelines For Hyper-Ige Syndrome 

      Woellner, Cristina; Gertz, E. Michael; Schaeffer, Alejandro A.; Lagos, Macarena; Perro, Mario; Glocker, Erik-Oliver; Pietrogrande, Maria C.; Cossu, Fausto; Franco, Josee L.; Matamoros, Nuria; Pietrucha, Barbara; Heropolitanska-Pliszka, Edyta; Yeganeh, Mehdi; Moin, Mostafa; Espanol, Teresa; Ehl, Stephan; Gennery, Andrew R.; Abinun, Mario; Breborowicz, Anna; Niehues, Tim; Kilic, Sara Sebnem; Junker, Anne; Turvey, Stuart E.; Plebani, Alessandro; Sanchez, Berta; Garty, Ben-Zion; Pignata, Claudio; Cancrini, Caterina; Litzman, Jiri; Sanal, Oezden; Baumann, Ulrich; Bacchetta, Rosa; Hsu, Amy P.; Davis, Joie N.; Hammarstroem, Lennart; Davies, E. Graham; Eren, Efrem; Arkwright, Peter D.; Moilanen, Jukka S.; Viemann, Dorothee; Khan, Sujoy; Laszlo Marodi; Cant, Andrew J.; Freeman, Alexandra F.; Puck, Jennifer M.; Holland, Steven M.; Grimbacher, Bodo (Mosby-Elsevier, 2010)
      Background: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated ...
    • Mutations In Stat3 And Il12Rb1 Impair The Development Of Human Il-17–Producing T Cells 

      de Beaucoudrey, Ludovic; Puel, Anne; Filipe-Santos, Orchidée; Cobat, Aurélie; Ghandil, Pegah; Chrabieh, Maya; Feinberg, Jacqueline; von Bernuth, Horst; Samarina, Arina; Jannière, Lucile; Fieschi, Claire; Stéphan, Jean-Louis; Boileau, Catherine; Lyonnet, Stanislas; Jondeau, Guillaume; Cormier-Daire, Valérie; Le Merrer, Martine; Hoarau, Cyrille; Lebranchu, Yvon; Lortholary, Olivier; Chandesris, Marie-Olivia; Tron, François; Gambineri, Eleonora; Bianchi, Lucia; Rodriguez-Gallego, Carlos; Zitnik, Simona E.; Vasconcelos, Julia; Guedes, Margarida; Vitor, Artur Bonito; Marodi, Laszlo; Chapel, Helen; Reid, Brenda; Roifman, Chaim; Nadal, David; Reichenbach, Janine; Caragol, Isabel; Garty, Ben-Zion; Dogu, Figen; Camcioglu, Yildiz; Gülle, Sanyie; Sanal, Ozden; Fischer, Alain; Abel, Laurent; Stockinger, Birgitta; Picard, Capucine; Casanova, Jean-Laurent (2008)
      The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17–producing T helper cells ...
    • Mutations In The Chloride-Bicarbonate Exchanger Gene Ae1 Cause Autosomal Dominant But Not Autosomal Recessive Distal Renal Tubular Acidosis 

      Karet, FE; Gainza, FJ; Gyory, AZ; Unwin, RJ; Wrong, O; Tanner, MJA; Nayir, A; Alpay, H; Santos, F; Hulton, SA; Bakkaloglu, A; Ozen, Seza; Cunningham, MJ; di Pietro, A; Walker, WG; Lifton, RP (Natl Acad Sciences, 1998)
      Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either ...
    • Mutations In The Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis And Infantile Systemic Hyalinosis 

      Hanks, S; Adams, S; Douglas, J; Arbour, L; Atherton, DJ; Balci, S; Bode, H; Campbell, ME; Feingold, M; Keser, G; Kleijer, W; Mancini, G; McGrath, JA; Muntoni, F; Nanda, A; Teare, MD; Warman, M; Pope, FM; Superti-Furga, A; Futreal, PA; Rahman, N (Univ Chicago Press, 2003)
      Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline ...
    • Mutations In The Gene Encoding Gap Junction Protein Alpha 12 (Connexin 46.6) Cause Pelizaeus-Merzbacher-Like Disease 

      Uhlenberg, B; Schuelke, M; Ruschendorf, F; Ruf, N; Kaindl, AM; Henneke, M; Thiele, H; Stoltenburg-Didinger, G; Aksu, F; Topaloglu, H; Nurnberg, P; Hubner, C; Weschke, B; Gartner, J (Cell Press, 2004)
      The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In a consanguineous family ...
    • Mutations In The Gene Encoding The Rer Protein Fkbp65 Cause Autosomal-Recessive Osteogenesis Imperfecta 

      Alanay, Yasemin; Avaygan, Hrispima; Camacho, Natalia; Utine, G. Eda; Boduroglu, Koray; Aktas, Dilek; Alikasifoglu, Mehmet; Tuncbilek, Ergul; Orhan, Diclehan; Bakar, Filiz Tiker; Zabel, Bernard; Superti-Furga, Andrea; Bruckner-Tuderman, Leena; Curry, Cindy J. R.; Pyott, Shawna; Byers, Peter H.; Eyre, David R.; Baldridge, Dustin; Lee, Brendan; Merrill, Amy E.; Davis, Elaine C.; Cohn, Daniel H.; Akarsu, Nurten; Krakow, Deborah (Cell Press, 2010)
      Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of ...
    • Mutations In The Interleukin Receptor Il11Ra Cause Autosomal Recessive Crouzon-Like Craniosynostosis 

      Keupp, Katharina; Li, Yun; Vargel, Ibrahim; Hoischen, Alexander; Richardson, Rebecca; Neveling, Kornelia; Alanay, Yasemin; Uz, Elif; Elcioğlu, Nursel; Rachwalski, Martin; Kamaci, Soner; Tunçbilek, Gökhan; Akin, Burcu; Grötzinger, Joachim; Konas, Ersoy; Mavili, Emin; Müller-Newen, Gerhard; Collmann, Hartmut; Roscioli, Tony; Buckley, Michael F; Yigit, Gökhan; Gilissen, Christian; Kress, Wolfram; Veltman, Joris; Hammerschmidt, Matthias; Akarsu, Nurten A; Wollnik, Bernd (2013)
      We have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface ...