Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient

Am J Med Genet A. 2017 Jun;173(6):1607-1610. doi: 10.1002/ajmg.a.38234. Epub 2017 Apr 21.

Authors

Susana Carmona^{1

2}, Maria da Luz Freitas³, Hugo Froufe¹, Maria José Simões¹, Maria João Sampaio⁴, Eduardo D Silva⁵, Conceição Egas^{1

6}

Affiliations

¹ Next-Gen Sequencing Unit, UC-Biotech, Cantanhede, Portugal.
² Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
³ Department of Ophthalmology, Hospital da Luz-Arrábida, Porto, Portugal.
⁴ Department of Paediatrics, Hospital CUF Porto, Porto, Portugal.
⁵ Faculty of Medicine, IBILI, University of Coimbra, Coimbra, Portugal.
⁶ Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.

PMID: 28432732
DOI: 10.1002/ajmg.a.38234

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Anterior Eye Segment / abnormalities*
Codon, Nonsense*
Exome Sequencing
Eye Abnormalities / diagnosis*
Eye Abnormalities / genetics*
Eye Diseases, Hereditary
Forkhead Transcription Factors / chemistry
Forkhead Transcription Factors / genetics*
Genome-Wide Association Study
Humans
Infant
Male
Pedigree
Phenotype
Protein Domains
Sequence Analysis, DNA

Substances

Codon, Nonsense
FOXC1 protein, human
Forkhead Transcription Factors

Supplementary concepts

Axenfeld-Rieger syndrome