Article
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Clinical genetics - 1 May 2016
Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex M-P, David A, Delahaye-Duriez A, Delezoïde A-L, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont J-P, Cormier-Daire V
Abstract excerpt
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger...
Topics
- Cell Cycle Proteins
- De Lange Syndrome
- Face
- Facial Asymmetry
- Facies
- Female
- Germ-Line Mutation
- Humans
- Leukocytes
- Male