ArticleAmerican journal of human genetics1992
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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Who cites it
65 citing papers in PubMed, 188 citations in OpenAlex.
- Clinical manifestations of Waardenburg syndrome in a male adolescent in Mali, West Africa.Journal of community health · 2015Trial
- Waardenburg syndrome: a unique presentation with unilateral choroidal hypopigmentation and bilateral congenital toxoplasmosis scars.BMJ case reports · 2025Article
- A novel frameshift variant ofFrontiers in genetics · 2025Article
- Concurrent Cardiac and Renal Anomalies in Waardenburg Syndrome Type 1: A Report of a Rare Case.Cureus · 2024Article
- Article
- Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.Audiology research · 2023Article
- A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.World journal of pediatrics : WJP · 2023Article
- Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.Journal of medical case reports · 2022Article
- Hearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series.Translational pediatrics · 2022Article
- Waardenburg Syndrome Type 1.Indian journal of ophthalmology · 2022Article
- Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.Human genetics · 2022Article
- Case report: Exotropia in waardenburg syndrome with novel variations.Frontiers in genetics · 2022Article
- Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.BMC pediatrics · 2021Article
- Corpus callosotomy for drug-resistant epilepsy in a pediatric patient with Waardenburg syndrome Type I.Surgical neurology international · 2021Article
- Case Report: A NovelFrontiers in genetics · 2021Article
- A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.Molecular genetics & genomic medicine · 2020Article
- Ophthalmological features and treatments in five cases of Waardenburg syndrome.Experimental and therapeutic medicine · 2020Article
- Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.Molecular genetics & genomic medicine · 2020Article
5 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained from 41 WS type I and 3 WS type II families which were typed for six polymorphic loci on chromosome 2q in order to refine the location of the WS locus (WS1) and evaluate the extent of genetic heterogeneity. In the course of this work, we developed diagnostic criteria for genetic and phenotypic studies. Our findings, based on two-locus and multilocus analysis using a linkage map established from reference pedigrees, suggest that there are two or more mutations causing WS, one of which (i.e., WS1) is located on chromosome 2q, between the ALPP and FN1 loci, at distances of 7.8 cM and 11.2 cM for each marker, respectively. The results also indicate that WS1 is responsible for the illness in approximately 45% of all families in this sample. However, the odds favoring this position over a location between ALPP and SAG are only 2:1 when alternate assumptions about the proportion of linked families are considered. We conclude that a more saturated map of this region of chromosome 2q, including highly polymorphic markers, will be needed to accurately distinguish linked families and, ultimately, isolate the mutant gene.
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1349198PMC1682585W1567829440What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.