Citations 3
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG
Alsharhan, Hind , Daniel, Earnest James Paul , Friedman, Jennifer , Pivnick, Enikö K., Faqeih, Eissa , Liu, Pengfei , Engelhardt, Nicole , Keller, Kierstin , Chen, Jie , Mazzeo, Pamela A., Bamshad, Michael J. , Nickerson, Deborah A. , Raymond, Kimiyo , He, Miao , Edmondson, Andrew C. , Lam, Christina , Raymond, Kimiyo M, Lam, Christina , Edmondson, Andrew C , Engelhardt, Nicole M , Ng, Bobby G. , Alhashem, Amal Mohammed , Rosenfeld, Jill A. , Freeze, Hudson H.
Journal of Inherited Metabolic Disease | February 14, 2021 | Volume: 44 | Issue: 4 | Pages: 987-1000
AbstractCongenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3‐CDG frequently exhibit severe neurological involvement (epilepsy, microcephaly, and hypotonia), ocular anomalies, dysmorphic features, skeletal anomalies, and feeding difficulties. We present 10 unreported individuals diagnosed with ALG3‐CDG based on molecular and biochemical testing with 11 novel variants in ALG3, bringing the total to 40 reported individuals. In addition to the typical multisystem disease seen in ALG3‐CDG, we expand the symptomatology of ALG3‐CDG to now include endocrine abnormalities, neural tube defects, mild aortic root dilatation, immunodeficiency, and renal anomalies. N‐glycan analyses of these individuals showed combined deficiencies of hybrid glycans and glycan extension beyond Man5GlcNAc2 consistent with their truncated lipid‐linked precursor oligosaccharides. This spectrum of N‐glycan changes is unique to ALG3‐CDG. These expanded features of ALG3‐CDG facilitate diagnosis and suggest that optimal management should include baseline endocrine, renal, cardiac, and immunological evaluation at the time of diagnosis and with ongoing monitoring.
Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Koczkowska, Magdalena , Callens, Tom, Chen, Yunjia , Gomes, Alicia , Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim, Armstrong, Linlea , Bosanko, Katherine A. , Babovic‐Vuksanovic, Dusica , Baker, Laura, Basel, Donald , Bengala, Mario, Chambers, Chelsea , Clarkson, L. Kate, Clementi, Maurizio , Cortés, Fanny, Cunningham, Mitch , D’Agostino, Daniela , Delatycki, Martin B. , Digilio, M. Cristina , Dosa, Laura, Esposito, Silvia , Freckmann, Mary‐Louise , Fauth, Christine , Giugliano, Teresa , Giustini, Sandra , Goetsch, Allison L. , Goldberg, Yael , Greenwood, Robert , Griffis, Cristin, Gripp, Karen W. , Gupta, Punita , Haan, Eric , Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J. , Hudgins, Louanne , Janssens, Sandra , Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina , Korf, Bruce R. , Lewis, Andrea M. , Liebelt, Jan, Lichty, Angie, Listernick, Robert , Lyons, Michael J. , Maystadt, Isabelle , Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley , Melis, Daniela , Mendelsohn, Nancy J., Nowaczyk, Małgorzata J.M. , Ortenberg, June, Panzer, Karin, Pappas, John , Pierpont, Mary Ella , Pinna, Valentina, Pivnick, Enikö K., Pond, Dinel , Powell, Cynthia M. , Rogers, Caleb , Ruhrman‐Shahar, Noa , Rutledge, S. Lane , Saletti, Veronica , Sandaradura, Sarah A. , Schatz, Ulrich A. , Schreiber, Allison, Sellars, Elizabeth A. , Siqveland, Elizabeth, Slopis, John M. , Smith, Rosemarie, Spalice, Alberto , Stockton, David W., Streff, Haley , Theos, Amy , Tran, Grace , Trapane, Pamela , Trevisson, Eva , Ullrich, Nicole J. , Ende, Jenneke van den , Wallace, Stephanie E , Weaver, David D. , Yohay, Kaleb , Zackai, Elaine H. , Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen , Eoli, Marica , Wimmer, Katharina , Luca, Alessandro De , Messiaen, Ludwine , Trevisson, Eva , Wangler, Michael F , Claes, Kathleen B M , Wimmer, Katharina , De Luca, Alessandro , Messiaen, Ludwine M , Gupta, Punita , Bennett, James T , Fox, Stephanie, Hernández-Chico, Concepción, Piluso, Giulio , Santoro, Claudia , Scott, Daryl A , Sheffer, Ruth N. , Tomlinson, Gail Elizabeth , Vergano, Samantha A. Schrier , Martín, Yolanda , Legius, Eric
Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
Rojnueangnit, Kitiwan , Xie, Jing , Gomes, Alicia , Sharp, Angela, Callens, Tom, Chen, Yunjia , Liu, Ying , Abbott, Mary‐Alice , Atkin, Joan, Babovic‐Vuksanovic, Dusica , Barnett, Christopher , Crenshaw, Melissa , Bartholomew, Dennis W., Basel, Lina, Bellus, Gary A. , Ben‐Shachar, Shay , Bialer, Martin G., Bick, David , Blumberg, Bruce , Cortés, Fanny, David, Karen L. , Destrèe, Anne , Rodríguez, Anna Duat , Earl, Dawn , Eswara, Marthanda, Ezquieta, Begoña, Frayling, Ian M. , Frydman, Moshe , Gardner, Kathy, Gripp, Karen W. , Hernández‐Chico, Concepción, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra , Keena, Beth, Llano‐Rivas, Isabel , Leppig, Kathy, McDonald, Marie , Misra, Vinod K. , Mulbury, Jennifer, Narayanan, Vinodh , Orenstein, Naama, Galvin‐Parton, Patricia , Pedro, Hélio , Pivnick, Enikö K., Powell, Cynthia M. , Randolph, Linda M., Raskin, Salmo , Rubin, Karol, Seashore, Margretta R., Schaaf, Christian P. , Schultz, Meredith, Schorry, Elizabeth K. , Schnur, Rhonda E. , Siqveland, Elizabeth, Tkachuk, Amanda , Tonsgard, James H. , Upadhyaya, Meena , Verma, Ishwar C. , Wallace, Stephanie E , Williams, Charles A. , Zackai, Elaine H. , Zonana, Jonathan, Lázaro, Conxi , Claes, Kathleen , Korf, Bruce R. , Messiaen, Ludwine , Babovic-Vuksanovic, Dusica, Cochran, J. Nicholas , Escobar, Luis Fernando , Hernández-Chico, Concepción, Rosell, Jordi , Scheuerle, Angela E. , Martín, Yolanda , Legius, Eric , Claes, Kathleen B M , Lazaro, Conxi
Human Mutation | July 14, 2015 | Volume: 36 | Issue: 11 | Pages: 1052-1063