BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. (c) 2008 Wiley-Liss, Inc.
BACKGROUND:Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformationspatients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. (c) 2008 Wiley-Liss, Inc.
Authors: Romy van de Putte; Charlotte H W Wijers; Heiko Reutter; Sita H Vermeulen; Carlo L M Marcelis; Erwin Brosens; Paul M A Broens; Markus Homberg; Michael Ludwig; Ekkehart Jenetzky; Nadine Zwink; Cornelius E J Sloots; Annelies de Klein; Alice S Brooks; Robert M W Hofstra; Sophie A C Holsink; Loes F M van der Zanden; Tessel E Galesloot; Paul Kwong-Hang Tam; Marloes Steehouwer; Rocio Acuna-Hidalgo; Maartje van de Vorst; Lambertus A Kiemeney; Maria-Mercè Garcia-Barceló; Ivo de Blaauw; Han G Brunner; Nel Roeleveld; Iris A L M van Rooij Journal: PLoS One Date: 2019-05-28 Impact factor: 3.240
Authors: Tao Zhang; Xiao Bing Tang; Li Li Wang; Yu Zuo Bai; Guang Rong Qiu; Zheng Wei Yuan; Wei Lin Wang Journal: Int J Med Sci Date: 2013-01-09 Impact factor: 3.738