ArticleMolecular vision2013
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- A novel frameshift variant ofFrontiers in genetics · 2025Article
- A review of the revisions and complications management procedure in sinus surgery.Journal of family medicine and primary care · 2022Review
- Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.PloS one · 2021Article
- The heterozygousInternational journal of ophthalmology · 2019Article
- PAX3 gene deletion detected by microarray analysis in a girl with hearing loss.Molecular cytogenetics · 2014Article
- Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome.Allergy & rhinology (Providence, R.I.) · 2014Article
- Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
- GENETIC DISORDERS OF PITUITARY DEVELOPMENT IN PATIENTS WITH SHEEHAN'S SYNDROME.Acta endocrinologica (Bucharest, Romania : 2005)Article
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Authors and funding
5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
purposeScreening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1).
methodsWS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly.
resultsA novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45(th) residue of helix 3.
conclusionsWe identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity.
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23378733PMC3559089W1556811671What OpenQuestion holds
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