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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study by Claire Forde; Emma Burkitt-Wright; Peter D. Turnpenny; Eric Haan; John Ealing; Sahar Mansour; Muriel Holder; Nayana Lahiri; Abhijit Dixit; Annie Procter; Laurence Pacot; Dominique Vidaud; Yline Capri; Marion Gerard; Hélène Dollfus; Elise Schaefer; Chloé Quelin; Sabine Sigaudy; Tiffany Busa; Gabriella Vera; Lena Damaj; Ludwine Messiaen; David A. Stevenson; Peter Davies; Sheila Palmer-Smith; Alison Callaway; Pierre Wolkenstein; Eric Pasmant; Meena Upadhyaya is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract Individuals with the three base pair deletion NM\_000267.3(NF1):c.2970\_2972del p.(Met992del) have been recognised to present with a milder neurofibromatosis type 1 (NF1) phenotype characterised by café-au-lait macules (CALs) and intertriginous freckling, as well as a lack of cutaneous, subcutaneous and plexiform neurofibromas and other NF1-associated complications. Examining large cohorts of patients over time with this specific genotype is important to confirm the presentation and associated risks of this variant across the lifespan. Forty-one individuals with the in-frame NF1 deletion p.Met992del were identified from 31 families. Clinicians completed a standardised clinical questionnaire for each patient and the resulting data were collated and compared to published cohorts. Thirteen patients have been previously reported, and updated clinical information has been obtained for these individuals. Both CALs and intertriginous freckling were present in the majority of individuals (26/41, 63%) and the only confirmed features in 11 (27%). 34/41 (83%) of the cohort met NIH diagnostic criteria. There was a notable absence of all NF1-associated tumour types (neurofibroma and

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Author

Claire Forde; Emma Burkitt-Wright; Peter D. Turnpenny; Eric Haan; John Ealing; Sahar Mansour; Muriel Holder; Nayana Lahiri; Abhijit Dixit; Annie Procter; Laurence Pacot; Dominique Vidaud; Yline Capri; Marion Gerard; Hélène Dollfus; Elise Schaefer; Chloé Quelin; Sabine Sigaudy; Tiffany Busa; Gabriella Vera; Lena Damaj; Ludwine Messiaen; David A. Stevenson; Peter Davies; Sheila Palmer-Smith; Alison Callaway; Pierre Wolkenstein; Eric Pasmant; Meena Upadhyaya

Publisher

Springer Science and Business Media LLC

Published

2021

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)