Phenotypic manifestations of branchiootorenal syndrome

Chen, Achih; Francis, Mary C.; Ni, Li; Cremers, C.W.R.J.; Kimberling, William J.; Sato, Yutaka; Phelps, P. D.; Bellman, Susan; Wagner, Michael J.; Pembrey, Marcus; Smith, Richard J.

doi:10.1002/ajmg.1320580413

Cited by 183 publications

(184 citation statements)

References 27 publications

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“…A recent paper describing phenotypic manifestations associated with BOR syndrome also demonstrated a high prevalence (67%) of renal malformation, assessed by ultrasonography and excretory urography (Chen et al 1995). The present family showed variability: all had hear- ing loss, one out of three had unilateral branchial cleft fistulas, and one had renal anomaly.…”

Section: Discussionsupporting

confidence: 56%

“…Recent advances in computed tomography have revealed a high incidence of association with inner and ossicle malformations in BOR families (Chen et al 1995). All of our patients had the characteristic features of BOR syndrome: hypoplasia of the cochlea, hypoplasia of the lateral and posterior semicircular canal, and abnormal ossicular chain (laterally shifted malleus) (Fig.…”

Section: Discussionmentioning

confidence: 70%

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EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

et al. 1999

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Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This is the first report confirming that an EYA1 gene mutation is also disease-causing in an Asian population. We have described one Japanese BOR syndrome family showing a novel mutation in exon 7 of the EYA1 gene. There was extensive variation of clinical phenotypes within this family. When the physician is confronted with a BOR family showing a wide variation in clinical expression, molecular genetic testing helps to achieve accurate diagnosis.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 70%

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

et al. 1999

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“…1 The highly variable phenotype in patients with BOR syndrome comprises hearing loss (93%), preauricular pits (82%), renal anomalies (67%), branchial fistulae (49%), deformed pinnae (36%) and external auditory canal stenosis (29%). 2 Less frequent findings include preauricular tags (13%) and lacrimal duct aplasia (11%). 2 A set of diagnostic criteria was suggested by Chang et al 3 Based on clinical presentation, the prevalence of BOR was estimated to be 1:40 000, and to affect approximately 2% of profoundly deaf children.…”

Section: Introductionmentioning

confidence: 99%

“…2 Less frequent findings include preauricular tags (13%) and lacrimal duct aplasia (11%). 2 A set of diagnostic criteria was suggested by Chang et al 3 Based on clinical presentation, the prevalence of BOR was estimated to be 1:40 000, and to affect approximately 2% of profoundly deaf children. 4 Hearing loss is a crucial finding, presenting as sensorineural, conductive or mixed type with about equal distribution of the three types of hearing loss.…”

Section: Introductionmentioning

confidence: 99%

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

et al. 2007

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The branchio -oto -renal (BOR) syndrome is an autosomal-dominant disorder characterized by hearing loss, branchial and renal anomalies. BOR is genetically heterogeneous and caused by mutations in EYA1 (8q13.3), SIX1 (14q23.1), SIX5 (19q13.3) and in an unidentified gene on 1q31. We examined six Danish families with BOR syndrome by assessing linkage to BOR loci, by performing EYA1 multiplex ligationdependent probe amplification (MLPA) analysis for deletions and duplications and by sequencing of EYA1, SIX1 and SIX5. We identified four EYA1 mutations (c.920delG, IVS10À1G4A, IVS12 þ 4A4G and p.Y591X) and one SIX1 mutation (p.W122R), providing a molecular diagnosis in five out of the six families (83%). The present, yet preliminary, observation that renal and temporal bone malformations are less frequent in SIX1-related disease suggests a slightly different clinical profile compared to EYA1-related disease. Unidentified mutations impairing mRNA expression or further genetic heterogeneity may explain the lack of mutation finding in one family despite LOD score indications of EYA1 involvement.

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“…4 Clinical expression is highly variable within and among families, but typical manifestations are branchial arch anomalies (preauricular pits, branchial fistulae and pinnae abnormalities), hearing loss (conductive, sensorineural or mixed) and renal hypoplasia. 5,6 BOR syndrome was localised to chromosome 8q13.3 by linkage analysis 7 -14 and deletion mapping. 11,14,15 Recently, a second locus was identified at chromosome 1q31.…”

Section: Introductionmentioning

confidence: 99%

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

et al. 2002

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Branchio-Oto-Renal (BOR) syndrome is transmitted as an autosomal dominant disorder, affects an estimated 2% of profoundly deaf children, and is caused by mutations in the human EYA1 gene. However, in up to half of the reported cases, EYA1 mutation screening is negative. This finding has been taken as evidence of genetic heterogeneity. Mutation screening of the coding region of EYA1 in a panel of families linked to chromosome 8 was conducted using SSCP and direct sequencing. Only one point mutation in five probands was detected. However, complex rearrangements, such as inversions or large deletions, were discovered in the other four patients using Southern blot analysis. These data suggest that more complex rearrangements may remain undetected in EYA1 since SSCP and sequencing were commonly used to detect mutations in this gene.

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Phenotypic manifestations of branchiootorenal syndrome

Cited by 183 publications

References 27 publications

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

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