Article
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
European journal of human genetics : EJHG - 1 Dec 2018
Chen Heidi I, Jagadeesh Karthik A, Birgmeier Johannes, Wenger Aaron M, Guturu Harendra, Schelley Susan, Bernstein Jonathan A, Bejerano Gill
Abstract excerpt
Approximately 2% of the human genome accounts for protein-coding genes, yet most known Mendelian disease-causing variants lie in exons or splice sites. Individuals who symptomatically present with monogenic disorders but do not possess function-altering variants in the protein-coding regions of causative genes may harbor variants in the surrounding gene regulatory domains. We present such a case: a male of...
Topics
- Binding Sites
- Child, Preschool
- Copper-Transporting ATPases
- DNA-Binding Proteins
- Hep G2 Cells
- Hepatolenticular Degeneration
- Homozygote
- Humans
- Male
- Mutation
- Promoter Regions, Genetic
- Protein Binding
- Transcription Factors