Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
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SUBMITTER: Koczkowska M
PROVIDER: S-EPMC6973139 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska Magdalena M Callens Tom T Chen Yunjia Y Gomes Alicia A Hicks Alesha D AD Sharp Angela A Johns Eric E Uhas Kim Armfield KA Armstrong Linlea L Bosanko Katherine Armstrong KA Babovic-Vuksanovic Dusica D Baker Laura L Basel Donald G DG Bengala Mario M Bennett James T JT Chambers Chelsea C Clarkson Lola K LK Clementi Maurizio M Cortés Fanny M FM Cunningham Mitch M D'Agostino M Daniela MD Delatycki Martin B MB Digilio Maria C MC Dosa Laura L Esposito Silvia S Fox Stephanie S Freckmann Mary-Louise ML Fauth Christine C Giugliano Teresa T Giustini Sandra S Goetsch Allison A Goldberg Yael Y Greenwood Robert S RS Griffis Cristin C Gripp Karen W KW Gupta Punita P Haan Eric E Hachen Rachel K RK Haygarth Tamara L TL Hernández-Chico Concepción C Hodge Katelyn K Hopkin Robert J RJ Hudgins Louanne L Janssens Sandra S Keller Kory K Kelly-Mancuso Geraldine G Kochhar Aaina A Korf Bruce R BR Lewis Andrea M AM Liebelt Jan J Lichty Angie A Listernick Robert H RH Lyons Michael J MJ Maystadt Isabelle I Martinez Ojeda Mayra M McDougall Carey C McGregor Lesley K LK Melis Daniela D Mendelsohn Nancy N Nowaczyk Malgorzata J M MJM Ortenberg June J Panzer Karin K Pappas John G JG Pierpont Mary Ella ME Piluso Giulio G Pinna Valentina V Pivnick Eniko K EK Pond Dinel A DA Powell Cynthia M CM Rogers Caleb C Ruhrman Shahar Noa N Rutledge S Lane SL Saletti Veronica V Sandaradura Sarah A SA Santoro Claudia C Schatz Ulrich A UA Schreiber Allison A Scott Daryl A DA Sellars Elizabeth A EA Sheffer Ruth R Siqveland Elizabeth E Slopis John M JM Smith Rosemarie R Spalice Alberto A Stockton David W DW Streff Haley H Theos Amy A Tomlinson Gail E GE Tran Grace G Trapane Pamela L PL Trevisson Eva E Ullrich Nicole J NJ Van den Ende Jenneke J Schrier Vergano Samantha A SA Wallace Stephanie E SE Wangler Michael F MF Weaver David D DD Yohay Kaleb H KH Zackai Elaine E Zonana Jonathan J Zurcher Vickie V Claes Kathleen B M KBM Eoli Marica M Martin Yolanda Y Wimmer Katharina K De Luca Alessandro A Legius Eric E Messiaen Ludwine M LM
Human mutation 20191026 1
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% of unrelated NF1 individuals. About 25% (95% confidence interval: 20.5-31.2%) of individuals heterozygous for a pathogenic NF1 p.Met1149, p.Arg1276, or p.Lys1423 missense variant had a Noonan-like phenotype, which is significantly more compared with t ...[more]
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