Juvenile Katarakt assoziiert mit Mikrokornea und Glukosurie: Ein neues Syndrom

Vandekerckhove, Kristof; Ap, Lange; Herzog, Denise; Schipper, Isaak

doi:10.1055/s-2007-962943

Cited by 7 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…4,5 Of particular interest to this work is a Swiss family with juvenile cataract, associated with microcornea and renal glucosuria. 7 Although renal glucosuria is not considered a disease, affected individuals show characteristic elevation of glucose concentration in the urine, without evidence of other renal tubular defects. The pattern of inheritance has been described as codominant with variable penetrance.…”

mentioning

confidence: 99%

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

Kloeckener-Gruissem

Vandekerckhove

Nürnberg

et al. 2008

The American Journal of Human Genetics

View full text Add to dashboard Cite

Unobstructed vision requires a particular refractive index of the lens, a measure based on the organization of the structural proteins within the differentiated lens cells. To ensure an intact lens structure, homeostasis within the lens cells is indispensable. Alterations of the lens structure result in opacity and lead to cataract. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. In a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria, we have identified a nonsense mutation in a member of the carboxylic acid transporter family SLC16. The underlying gene defect in SLC16A12 resides within a 3 cM region on chromosome 10q23.13 defined by linkage mapping of this phenotype. We found tissue-specific variability of SLC16A12 transcript levels in control samples, with high expression in the eye and kidney, the two organs affected by this syndrome. This report demonstrates biological relevance of this solute carrier. We hypothesize that SLC16A12 is important for lens and kidney homeostasis and discuss its potential role in age-related cataract.

show abstract

mentioning

confidence: 99%

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

Kloeckener-Gruissem

Vandekerckhove

Nürnberg

et al. 2008

The American Journal of Human Genetics

View full text Add to dashboard Cite

show abstract

“…These pseudogenes are particularly expressed in the testis (Von Figura et al 2001) and brain (Bayou et al 2008). Recently, a second protein (MCT12) identified several years ago (Halestrap and Meredith 2004) has been associated to patients with a particular syndrome (Vandekerckhove et al 2007;KloeckenerGruissem et al 2008) and Cr transport defect (Abplanalp et al 2013). This protein is encoded by SLC16A12 gene that is located on 10q23.31 chromosome (Halestrap and Meredith 2004;Kloeckener-Gruissem et al 2008;Abplanalp et al 2013).…”

Section: Metabolism Of Creatinementioning

confidence: 96%

“…Concerning CJMG associated with MCT12 defect, urine Cr has not been evaluated in patients with this disorder (Vandekerckhove et al 2007;KloeckenerGruissem et al 2008). However, urine Cr concentration in SLC16A12 KO rats was high (Abplanalp et al 2013).…”

Section: Potential Applications To Prognosis Other Diseases or Condmentioning

confidence: 97%

Creatine as Biomarker

Ribes¹,

Pajares²,

Arias³

et al. 2015

Biomarkers in Disease: Methods, Discoveries and Applications

View full text Add to dashboard Cite

“…A heterozygous mutation (c.265G>A; p.(A89T)) added glycosuria to the phenotype of an otherwise unrelated disease, juvenile cataract with microcornea, caused by monoallelic SLC16A12 mutations. Because SLC16A12 was found to be also expressed in the kidney, the association had been initially reported as a new syndrome [102,103]. Further segregation studies demonstrated that glucosuria was a separate phenotype [104].…”

Section: Mutations Outside the Known Pattern For The Conditionmentioning

confidence: 98%

Inherited Renal Tubulopathies—Challenges and Controversies

Iancu

Ashton

2020

Genes

View full text Add to dashboard Cite

Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism. Establishing a genetic diagnosis in patients with renal tubular dysfunction is a challenging task given the genetic and phenotypic heterogeneity, functional characteristics of the genes involved and the number of yet unknown causes. Part of these difficulties can be overcome by gathering large patient cohorts and applying high-throughput sequencing techniques combined with experimental work to prove functional impact. This approach has led to the identification of a number of genes but also generated controversies about proper interpretation of variants. In this article, we will highlight these challenges and controversies.

show abstract

Juvenile Katarakt assoziiert mit Mikrokornea und Glukosurie: Ein neues Syndrom

Abstract: We have defined a new syndrome, consisting of the association of juvenile cataract, microcornea and renal glucosuria. The pattern of inheritance is autosomal-dominant. Genotyping is ongoing.

Cited by 7 publications

References 0 publications

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

Creatine as Biomarker

Inherited Renal Tubulopathies—Challenges and Controversies

Contact Info

Product

Resources

About