Eight previously unidentified mutations found in the OA1 ocular albinism gene.

BMC Medical Genetics
Hélène MayeurMarc Abitbol

Abstract

Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twent...Continue Reading

References

Nov 1, 1976·Archives of Ophthalmology·F E O'DonnellD L Stone
May 1, 1980·Histopathology·A Garner, B S Jay
Jan 1, 1994·Annual Review of Biochemistry·C D StraderR A Dixon
Aug 2, 2001·Human Genetics·J T den Dunnen, S E Antonarakis
Aug 25, 2001·The British Journal of Ophthalmology·M PreisingB Lorenz
Dec 26, 2001·Nucleic Acids Research·Alex BatemanErik L L Sonnhammer
Jul 18, 2003·Ophthalmic Genetics·Olivier CamandMarc Abitbol
Dec 19, 2003·Nucleic Acids Research·Alex BatemanSean R Eddy
Sep 13, 2005·Experimental Eye Research·Liliana Staleva, Seth J Orlow
Nov 24, 2005·Investigative Ophthalmology & Visual Science·Katia CorteseValeria Marigo

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Citations

Oct 14, 2016·Journal of Human Genetics·Lucia MauriPaola Primignani
Jul 17, 2009·Genetic Testing and Molecular Biomarkers·Lucia MicaleGiuseppe Merla
Jan 6, 2009·European Journal of Ophthalmology·Y WangS Lian
Nov 22, 2020·Pharmacological Reviews·Torsten Schöneberg, Ines Liebscher
Jan 29, 2021·European Journal of Human Genetics : EJHG·Abdullah AamirMervyn G Thomas

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Methods Mentioned

BETA
PCR
electrophoresis
biopsies

Software Mentioned

NNSPLICE
BioEdit
Chromas
Pfam

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