%0 Journal Article
%T Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
%A Amanda E. Links
%A Andrew Sear
%A Anna Lehman
%A Barbara N. Pusey
%A Camilo Toro
%A Christopher E. Mason
%A Christ¨¨le du Souich
%A Clara Van Karnebeek
%A Cornelius F. Boerkoel
%A David R. Adams
%A James C. Mullikin
%A Marie Morimoto
%A Marjolaine Limbos
%A May C. Malicdan
%A Patrice Eydoux
%A Paul Atkins
%A Pawel Stankiewicz
%A Praveen F. Cherukuri
%A Rosemarie Rupps
%A Samarth S. Bhatt
%A Valerie Maduro
%A William A. Gahl
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0439-6
%X Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a complex locus expressing multiple transcripts by alternative splicing and use of multiple promoters. To address the relationship between mutation of these transcripts and phenotype, we report a three-generation family segregating mild intellectual disability with a chromosomal translocation disrupting TCF4
%K Intellectual disability
%K Promoter utilization
%K Pitt-Hopkins syndrome
%K TCF4
%K Gene expression
%K Translocation
%K Transcriptome
%K RNAseq
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868023/