OBJECTIVE: To identify pathogenic mutation for a family with neurofibromatosis type 1(NF1) and provide prenatal diagnosis for them. METHODS: Mutation analysis of the sporadic family with NF1 was performed with target captured next generation sequencing and Sanger sequencing. RNA samples were extracted from the lymphocytes of NF1 patient and her parents. RT-PCR and Sanger sequencing were performed to analyze the relative mRNA expression in the samples. Prenatal diagnosis of the pathogenic mutation was offered to the fetus. RESULTS: A novel splicing mutation c.1260+4A>T in the NF1 gene was found in the proband of the family, but was not found in her parents.cDNA sequencing showed that 13 bases inserted into the 3' end of exon 11 in the NF1 gene lead to a frameshift mutation. Prenatal diagnosis suggested that the fetus did not carried the mutant. CONCLUSIONS: The NF1: c.1260+4A>T mutation found in the NF1 patient is considered to be pathogenic, which provides information for family genetic counseling and prenatal diagnosis.
OBJECTIVE: To identify pathogenic mutation for a family with neurofibromatosis type 1(NF1) and provide prenatal diagnosis for them. METHODS: Mutation analysis of the sporadic family with NF1 was performed with target captured next generation sequencing and Sanger sequencing. RNA samples were extracted from the lymphocytes of NF1 patient and her parents. RT-PCR and Sanger sequencing were performed to analyze the relative mRNA expression in the samples. Prenatal diagnosis of the pathogenic mutation was offered to the fetus. RESULTS: A novel splicing mutation c.1260+4A>T in the NF1 gene was found in the proband of the family, but was not found in her parents.cDNA sequencing showed that 13 bases inserted into the 3' end of exon 11 in the NF1 gene lead to a frameshift mutation. Prenatal diagnosis suggested that the fetus did not carried the mutant. CONCLUSIONS: The NF1: c.1260+4A>T mutation found in the NF1 patient is considered to be pathogenic, which provides information for family genetic counseling and prenatal diagnosis.
Authors: Charlotte Philpott; Hannah Tovell; Ian M Frayling; David N Cooper; Meena Upadhyaya Journal: Hum Genomics Date: 2017-06-21 Impact factor: 4.639
Authors: David H Gutmann; Rosalie E Ferner; Robert H Listernick; Bruce R Korf; Pamela L Wolters; Kimberly J Johnson Journal: Nat Rev Dis Primers Date: 2017-02-23 Impact factor: 52.329
Authors: Carmen Palma Milla; José Miguel Lezana Rosales; Javier López Montiel; Lucas David Andrés Garrido; Carlos Sánchez Linares; Sandra Carmona Tamajón; Carmen Torres Fernández; Pablo Sánchez González; Sara Franco Freire; Carmen Benito López; Juan López Siles Journal: Ann Hum Genet Date: 2018-07-16 Impact factor: 1.670
Authors: Magdalena Koczkowska; Yunjia Chen; Tom Callens; Alicia Gomes; Angela Sharp; Sherrell Johnson; Meng-Chang Hsiao; Zhenbin Chen; Meena Balasubramanian; Christopher P Barnett; Troy A Becker; Shay Ben-Shachar; Debora R Bertola; Jaishri O Blakeley; Emma M M Burkitt-Wright; Alison Callaway; Melissa Crenshaw; Karin S Cunha; Mitch Cunningham; Maria D D'Agostino; Karin Dahan; Alessandro De Luca; Anne Destrée; Radhika Dhamija; Marica Eoli; D Gareth R Evans; Patricia Galvin-Parton; Jaya K George-Abraham; Karen W Gripp; Jose Guevara-Campos; Neil A Hanchard; Concepcion Hernández-Chico; LaDonna Immken; Sandra Janssens; Kristi J Jones; Beth A Keena; Aaina Kochhar; Jan Liebelt; Arelis Martir-Negron; Maurice J Mahoney; Isabelle Maystadt; Carey McDougall; Meriel McEntagart; Nancy Mendelsohn; David T Miller; Geert Mortier; Jenny Morton; John Pappas; Scott R Plotkin; Dinel Pond; Kenneth Rosenbaum; Karol Rubin; Laura Russell; Lane S Rutledge; Veronica Saletti; Rhonda Schonberg; Allison Schreiber; Meredith Seidel; Elizabeth Siqveland; David W Stockton; Eva Trevisson; Nicole J Ullrich; Meena Upadhyaya; Rick van Minkelen; Helene Verhelst; Margaret R Wallace; Yoon-Sim Yap; Elaine Zackai; Jonathan Zonana; Vickie Zurcher; Kathleen Claes; Yolanda Martin; Bruce R Korf; Eric Legius; Ludwine M Messiaen Journal: Am J Hum Genet Date: 2017-12-28 Impact factor: 11.025