Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)

Puga, Ana Cristina; Nogueira, A.H.H.; Félix, Têmis Maria; Kwitko, Sérgio

doi:10.1002/(sici)1096-8628(19981102)80:2<177::aid-ajmg17>3.0.co;2-d

Cited by 10 publications

(6 citation statements)

References 8 publications

(7 reference statements)

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“…[8][9][10][11][12] Hearing preservation might depend on some residual SLC4A11 activity in patients with CHED2. However, residual activity is unlikely in those patients diagnosed with CHED2 who harboured truncating mutations of both alleles, 5 6 although it is possible that hearing loss was not yet present, or was overlooked, in at least some of these patients.…”

Section: Discussionmentioning

confidence: 99%

“…The eye phenotype was similar to CHED2, and the syndromic association with teenage-onset perceptive deafness was later reported in other unrelated families. [9][10][11] We reported an additional family with the same syndromic association, and mapped an autosomal recessive locus by homozygosity to a 7.73 cM interval on chromosome 20p13, 12 which overlapped the non-syndromic CHED2 locus by .5 cM. 3 4 This article reports six families of various ethnic origins with Harboyan syndrome (H1-6) and one family with congenital endothelial dystrophy where deafness could not be assessed because of the proband's young age (C1).…”

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confidence: 99%

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Désir¹,

Moya²,

Reish

et al. 2007

Journal of Medical Genetics

110

115

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Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive perceptive deafness, and is transmitted as an autosomal recessive trait. CDPD and autosomal recessive, non-syndromic congenital hereditary endothelial corneal dystrophy (CHED2) both map at overlapping loci at 20p13, and mutations of SLC4A11 were reported recently in CHED2. A genotype study on six families with CDPD and on one family with either CHED or CDPD, from various ethnic backgrounds (in the seventh family, hearing loss could not be assessed because of the proband's young age), is reported here. Novel SLC4A11 mutations were found in all patients. Why some mutations cause hearing loss in addition to corneal dystrophy is presently unclear. These findings extend the implication of the SLC4A11 borate transporter beyond corneal dystrophy to perceptive deafness.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Désir¹,

Moya²,

Reish

et al. 2007

Journal of Medical Genetics

110

115

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“…The predicted protein change was however slightly different in the two reports: Arg158GlnfsX4 in CHED2 [ 31 ], and Arg158ProfsX4 in Harboyan [ 20 ], because of a single nucleotide polymorphism (SNP, rs3827075) at the nucleotide immediately following the deletion, which was A/A in the CHED2 patient and C/C in the Harboyan patient. In the second case, the same residue, Serine 213, was involved in two different missense mutations: c.638C→T (Ser213Leu) in a CHED2 patient [ 25 ], and c.637T→C (Ser213Pro) in a Harboyan patient [ 20 ]. The latter Harboyan patient was a compound heterozygote, and her second mutation (Met856Val) might theoretically explain the different phenotype.…”

Section: Etiologymentioning

confidence: 99%

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Désir

Abramowicz

2008

Orphanet J Rare Dis

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Abstract

Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2). Hearing deficit in Harboyan is slowly progressive and typically found in patients 10–25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan). All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma). Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and Harboyan syndrome) should carefully be distinguished from the less severe autosomal dominant type CHED1. The ocular abnormalities in patients with Harboyan syndrome may be treated with topical hyperosmolar solutions. However, corneal transplantation (penetrating keratoplasty) represents definitive treatment. Corneal transplantation produces a substantial visual gain and has a relatively good surgical prognosis. Audiometric monitoring should be offered to all patients with CHED2. Hearing aids may be necessary in adolescence.

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“…4 This very rare syndrome was later reported in two Italian sibs 5 and in an isolated Brazilian patient. 6 We report here a third, previously undescribed family with Harboyan syndrome.…”

Section: Respectivelymentioning

confidence: 84%

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13

Abramowicz

Albuquerque-Silva²,

Zanen³

2002

Journal of Medical Genetics

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Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)

Cited by 10 publications

References 8 publications

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13

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