Absence of Phenotype-Genotype Correlation of Patients Expressing Mutations in the SLC4A11 Gene

Hemadevi, Boomiraj; Vithana, Eranga N.; Arunkumar, Jambulingam; Srinivasan, M; Prajna, Venkatesh; Tan, Donald; Aung, Tin; Sundaresan, Periasamy

doi:10.1097/ico.0b013e3181ae9038

Cited by 15 publications

(12 citation statements)

References 21 publications

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“…The corneal endothelium is derived from neural crest cells, and it is possible that NaBC1, given its postulated role in cell growth and proliferation, is required for the growth, proliferation, and migration of neural crest cells. 31,32 However, none of the previous Slc4a11 KO models indicated reduced proliferation or accelerated cell death of corneal endothelial cells. 18,25,26 Our results show that the corneal endothelial cell density of young KO mice at 10 weeks of age was comparable with WT mice, suggesting that cell proliferation is unaffected during development and the population of the endothelium (Fig.…”

Section: Discussionmentioning

confidence: 99%

Mice With a Targeted Disruption ofSlc4a11Model the Progressive Corneal Changes of Congenital Hereditary Endothelial Dystrophy

Han

Ang

Poh

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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Section: Discussionmentioning

confidence: 99%

Mice With a Targeted Disruption ofSlc4a11Model the Progressive Corneal Changes of Congenital Hereditary Endothelial Dystrophy

Han

Ang

Poh

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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“…23 Missense, nonsense, frameshift and splice site mutations leading to truncated protein in CHED, whereas missense and frameshift mutations in FECD and Harboyan syndrome have been described. 11,28,[31][32][33][34][35][36][37][38][39][40][41][42] These mutations are located throughout the protein in predicted N-terminal, cytosolic domains, transmembrane segments, and extracellular and cytosolic loops. Missense mutations in all three diseases are spread across different domains of the SLC4A11 protein and do not show any genotype-phenotype correlation.…”

Section: Discussionmentioning

confidence: 99%

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy

et al. 2014

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Late-onset Fuchs endothelial corneal dystrophy (FECD) shows genetic heterogeneity. Identification of SLC4A11 as a candidate gene for congenital hereditary endothelial dystrophy with similar corneal endothelial defects as FECD and reduced mRNA expression of SLC4A11 in the endothelium of FECD cases suggested that this gene may also be involved in pathogenesis of FECD. Mutations in SLC4A11 give rise to SLC4A11 protein marked by retention in the endoplasmic reticulum as a result of mis-folding. We screened 45 sporadic late-onset, 4 early-onset FECD patients and an early-onset autosomal dominant FECD family. We identified three previously unreported missense mutations: c.719G>C (p.W240S), c.1519G>A (p.V507I) and c.1304C>T (p.T434I) in unrelated individuals. These SLC4A11 mutants, expressed in HEK293 cells, had defects in either their cell surface expression or functional activity (rate of osmotically driven water flux). SLC4A11 mutations contribute to 11% (5/45) of sporadic late-onset FECD in the cohort studied. COL8A2, which causes some cases of early-onset FECD, was also screened in this cohort. No mutations were identified in COL8A2, in neither the late-onset cohort nor the early-onset family, suggesting genetic heterogeneity in this FECD family.

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“…I) Vision: corneal dystrophy. To date, nearly 60 mutations90 have been identified, scattered across the length of the BTR1 molecule, among individuals with corneal dystrophies(19,20,161,244,375,450,522,640,782,794,867,919,1011,1012). Pathological SLC4A11 mutations are most frequently inherited in a homozygous recessive manner, although numerous cases of compound heterozygous inheritance of SLC4A11 mutations have been described(20,244,375,782,919).…”

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confidence: 95%

The Divergence, Actions, Roles, and Relatives of Sodium-Coupled Bicarbonate Transporters

Parker

Boron

2013

Physiological Reviews

248

262

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The mammalian Slc4 (Solute carrier 4) family of transporters is a functionally diverse group of 10 multi-spanning membrane proteins that includes three Cl-HCO3 exchangers (AE1-3), five Na(+)-coupled HCO3(-) transporters (NCBTs), and two other unusual members (AE4, BTR1). In this review, we mainly focus on the five mammalian NCBTs-NBCe1, NBCe2, NBCn1, NDCBE, and NBCn2. Each plays a specialized role in maintaining intracellular pH and, by contributing to the movement of HCO3(-) across epithelia, in maintaining whole-body pH and otherwise contributing to epithelial transport. Disruptions involving NCBT genes are linked to blindness, deafness, proximal renal tubular acidosis, mental retardation, and epilepsy. We also review AE1-3, AE4, and BTR1, addressing their relevance to the study of NCBTs. This review draws together recent advances in our understanding of the phylogenetic origins and physiological relevance of NCBTs and their progenitors. Underlying these advances is progress in such diverse disciplines as physiology, molecular biology, genetics, immunocytochemistry, proteomics, and structural biology. This review highlights the key similarities and differences between individual NCBTs and the genes that encode them and also clarifies the sometimes confusing NCBT nomenclature.

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Absence of Phenotype-Genotype Correlation of Patients Expressing Mutations in the SLC4A11 Gene

Cited by 15 publications

References 21 publications

Mice With a Targeted Disruption ofSlc4a11Model the Progressive Corneal Changes of Congenital Hereditary Endothelial Dystrophy

Mice With a Targeted Disruption ofSlc4a11Model the Progressive Corneal Changes of Congenital Hereditary Endothelial Dystrophy

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy

The Divergence, Actions, Roles, and Relatives of Sodium-Coupled Bicarbonate Transporters

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