Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma.

Pasutto, F; Mauri, L; Popp, B; Sticht, H; Ekici, A; Piozzi, E; Bonfante, A; Penco, S; Schlötzer-Schrehardt, U; Reis, A

Pasutto, F; Mauri, L; Popp, B; Sticht, H; Ekici, A; Piozzi, E; Bonfante, A; Penco, S; Schlötzer-Schrehardt, U; Reis, A.

Affiliation

Pasutto F; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. Electronic address: francesca.pasutto@uk-erlangen.de.
Mauri L; Medical Genetics, A.O. Niguarda Ca'Granda Hospital, Milan, Italy.
Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Sticht H; Bioinformatics, Institute of Biochemistry, FAU Erlangen-Nürnberg, Erlangen, Germany.
Ekici A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Piozzi E; Pediatric Ophthalmology, A.O. Niguarda Ca'Granda Hospital, Milan, Italy.
Bonfante A; Medical Genetics, Ospedale S. Bassiano, Bassano del Grappa, Italy.
Penco S; Medical Genetics, A.O. Niguarda Ca'Granda Hospital, Milan, Italy.
Schlötzer-Schrehardt U; Department of Ophthalmology, FAU Erlangen-Nürnberg, Erlangen, Germany.
Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Gene ; 568(1): 76-80, 2015 Aug 15.

Article in En | MEDLINE | ID: mdl-25967385

Subject(s)

Anterior Eye Segment/abnormalities; Eye Abnormalities/diagnosis; Forkhead Transcription Factors/genetics; Glaucoma/diagnosis; Adult; Amino Acid Sequence; Base Sequence; Binding Sites; DNA Mutational Analysis; Delayed Diagnosis; Exome/genetics; Eye Abnormalities/genetics; Eye Diseases, Hereditary; Forkhead Transcription Factors/chemistry; Glaucoma/genetics; Humans; Male; Models, Molecular; Molecular Sequence Data; Protein Binding; Protein Structure, Secondary

Key words

AxenfeldRieger syndrome; FOXC1; Genetic testing; Glaucoma; Whole-exome sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Glaucoma / Forkhead Transcription Factors / Anterior Eye Segment Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Gene Year: 2015 Type: Article

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