Frequency of the branchio‐oto‐renal (BOR) syndrome in children with profound hearing loss

Fraser, F. Clarke; Sproule, J. R.; Halal, Fahed; Optiz, John M.

doi:10.1002/ajmg.1320070316

Cited by 217 publications

(155 citation statements)

References 20 publications

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“…Although patients without renal abnormalities were sometimes considered to have BO syndrome, recent reports have categorized them as part of a single BOR condition (Allanson 1995). In BOR syndrome, hearing loss is the most prevalent symptom (89%), followed by preauricular pits (77%), branchial cleft fistulas (63%), and renal anomalies (13%) (Fraser et al 1980). However, previous reports regarding renal anomalies have probably underestimated them because they were usually minor and asymptomatic (see Allanson 1995 for review).…”

Section: Discussionmentioning

confidence: 99%

“…Prevalence of the BOR syndrome has been estimated as 1 : 40,000, and therefore may account for as much as 2%-3% of profound hearing loss in children (Fraser et al 1980). Recent advances in molecular genetics have revealed that the gene responsible for BOR syndrome is localized in 8q Smith et al 1992), and that there were various mutations in the EYA1 gene, the human homologue of the Drosophila eyes absent gene, in Northern European and other BOR patients (Abdelhak et al 1997a;Abdelhak et al 1997b;Kumar et al 1997/98;Kumar et al 1998a;Kumar et al 1998b).…”

Section: Introductionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 1999

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“…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. The hearing impairment may be progressive and fluctuating.…”

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.…”

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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Frequency of the branchio‐oto‐renal (BOR) syndrome in children with profound hearing loss

Cited by 217 publications

References 20 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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