scholarly journals Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

2012 ◽  
Vol 55 (11) ◽  
pp. 620-624 ◽  
Author(s):  
Amirreza Haghighi ◽  
Maryam Razzaghy-Azar ◽  
Ali Talea ◽  
Mahnaz Sadeghian ◽  
Sian Ellard ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Congenital Generalized Lipodystrophy ◽  
Missense Substitution

scholarly journals Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis

2017 ◽  
Vol 45 (2) ◽  
pp. 549-555 ◽  
Author(s):  
Ting Wang ◽  
Haibo Li ◽  
Jingjing Xiang ◽  
Bin Wei ◽  
Qin Zhang ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Nonsense Mutation ◽  
Mutation Screening ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor ◽  
Site Mutation ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) including intron–exon boundaries was used to identify mutations associated with CIPA. Results A novel nonsense mutation (c.7C > T, p. Arg3Ter) and a known splice-site mutation (c.851-33 T > A) were detected in NTRK1 and shown to be associated with CIPA. Conclusion Our findings expand the known mutation spectrum of NTRK1 and provide insights into the aetiology of CIPA.

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

2015 ◽  
Vol 58 (4) ◽  
pp. 216-221 ◽  
Author(s):  
Musharraf Jelani ◽  
Saleem Ahmed ◽  
Mona Mohammad Almramhi ◽  
Hussein Sheikh Ali Mohamoud ◽  
Khadijah Bakur ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Congenital Generalized Lipodystrophy ◽  
Saudi Family

scholarly journals The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

BMC Genetics ◽  
2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Katalin Farkas ◽  
Barbara Kocsis Deák ◽  
Laura Cubells Sánchez ◽  
Ana Mercedes Victoria Martínez ◽  
Juan José Vilata Corell ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Familial Cylindromatosis

scholarly journals Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1

2005 ◽  
Vol 125 (3) ◽  
pp. 463-466 ◽  
Author(s):  
Claudia Consoli ◽  
Celia Moss ◽  
Stuart Green ◽  
Debra Balderson ◽  
David N. Cooper ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Nonsense Mutation ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4

2020 ◽  
Vol 63 (4) ◽  
pp. 103819
Author(s):  
Nilay Güneş ◽  
Tufan Kutlu ◽  
Gonca Topuzlu Tekant ◽  
Ayşe Güler Eroğlu ◽  
Nil Çomunoğlu Üstündağ ◽  
...  
Keyword(s):  
Congenital Generalized Lipodystrophy

Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia

1995 ◽  
Vol 78 (3) ◽  
pp. 251-254 ◽  
Author(s):  
Jan Jacques Michiels ◽  
Leonie van der Luit ◽  
Huub H.D.M. van Vliet ◽  
Kristin Jochmans ◽  
Willy Lissens
Keyword(s):  
Nonsense Mutation ◽  
At Deficiency ◽  
Dutch Family
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