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

Abramowicz, Marc; Albuquerque-Silva, J; Zanen, André

doi:10.1136/jmg.39.2.110

Cited by 14 publications

(11 citation statements)

References 8 publications

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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%

“…14 In the four consanguineous families, linkage analysis was carried out with microsatellite markers of the 20p13 region to which CDPD1 was mapped. 12 The following markers were studied: D20S864, D20S103, D20S117, D20S199, D20S179, D20S113, D20S198, D20S842, D20S181, D20S473, D20S867, D20S889, D20S116, D20S482, D20S437, D20S95, D20S905, D20S194, D20S156 and D20S851. Marker order was obtained from the Marshfield Comprehensive Human Genetic Maps (http://research.marshfieldclinic.org/genetics/GeneticResearch/ compMaps.asp) and the UCSC Genome Browser (http:// genome.ucsc.edu/cgi-bin/hgGateway).…”

Section: Methodsmentioning

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%

Section: Methodsmentioning

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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“…52 Metabolic disorders for which MRP genes associate by map position are Multiple Mitochondrial Dysfunctions, 53 Stuve-Wiedemann Syndrome, 51 Leigh Syndrome, 54 and diabetes. Candidate eye and ear disorders include Corneal Dystrophy and Perceptive Deafness, 55 Spinocerebellar Ataxia with blindness and deafness, Moebius Syndrome I, 52 Usher Syndrome, Type 1E, 56 DiGeorge Syndrome, 57 and nonsyndromic hearing losses (15 dominant and 7 autosomal recessive). Failure to maintain adequate ATP levels in cochlear hair cells, in the face of diminished oxidative phosphorylation capacity, may trigger mitochondrial apoptosis or necrosis in some or all of the stimulated hair cells, resulting in hearing loss.…”

Section: Mrp Characterization Gene Identification and Mappingmentioning

confidence: 99%

Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease

Sylvester

Fischel‐Ghodsian

Mougey

et al. 2004

Genetics in Medicine

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Most of the energy requirement for cell growth, differentiation, and development is met by the mitochondria in the form of ATP produced by the process of oxidative phosphorylation. Human mitochondrial DNA encodes a total of 13 proteins, all of which are essential for oxidative phosphorylation. The mRNAs for these proteins are translated on mitochondrial ribosomes. Recently, the genes for human mitochondrial ribosomal proteins (MRPs) have been identified. In this review, we summarize their refined chromosomal location. It is well known that mutations in the mitochondrial translation system, i.e., ribosomal RNA and transfer RNA cause various pathologies. In this review, we suggest possible associations between clinical conditions and MRPs based on coincidence of genetic map data and chromosomal location. These MRPs may be candidate genes for the clinical condition or may act as modifiers of existing known gene mutations (mt-tRNA, mt-rRNA, etc.). Genet Med 2004:6(2):73-80.

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“…Recessive SLC4A11 alleles have been associated with Harboyan syndrome (MIM 217400), characterized by congenital corneal dystrophy along with perceptive deafness, developing in the first to third decade of life [37,65–68]. SLC4A11 has been described as a sodium-borate cotransporter, although in cells grown in borate-free medium, it is permeable to sodium and hydroxide ions [69].…”

Section: Extraocular Phenotypic Characteristicsmentioning

confidence: 99%

The genetics of Fuchs’ corneal dystrophy

Iliff

Riazuddin

Gottsch

2012

Expert Review of Ophthalmology

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Fuchs′ corneal dystrophy (FCD) is a common late-onset genetic disorder of the corneal endothelium. It causes loss of endothelial cell density and excrescences in the Descemet membrane, eventually progressing to corneal edema, necessitating corneal transplantation. The genetic basis of FCD is complex and heterogeneous, demonstrating variable expressivity and incomplete penetrance. To date, three causal genes, ZEB1, SLC4A11 and LOXHD1, have been identified, representing a small proportion of the total genetic load of FCD. An additional four loci have been localized, including a region on chromosome 18 that is potentially responsible for a large proportion of all FCD cases. The elucidation of the causal genes underlying these loci will begin to clarify the pathogenesis of FCD and pave the way for the emergence of nonsurgical treatments.

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

Cited by 14 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

Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease

The genetics of Fuchs’ corneal dystrophy

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