title: Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
abstract: Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a severe and rare corneal disorder that presents at birth or shortly thereafter, characterized by corneal opacification and nystagmus. Recently the gene for CHED2 was identified and seven different mutations in the SLC4A11 gene were reported. Here, we report seven novel mutations and two previously identified mutations in families from India and the United Kingdom with recessive CHED. The novel changes include two nonsense (p.Trp240X; p.Gln800X) three missense (p.Glu143Lys; p.Cys386Arg; p.Arg755Trp) and two splice site mutations (c.2240+1G>A; c.2437-1G>A). Interestingly, the c.2398C>T (p.Gln800X) and c.2437-1G>A identified in two affected siblings represent the first compound heterozygous mutations in the SLC4A11 gene.
authors.affiliation: ONGC Department of Genetics & Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.
authors.forename: Vedam L
authors.initials: VL
authors.lastname: Ramprasad
authors.forename: Neil D
authors.initials: ND
authors.lastname: Ebenezer
authors.forename: Tin
authors.initials: T
authors.lastname: Aung
authors.forename: Rama
authors.initials: R
authors.lastname: Rajagopal
authors.forename: Victor H K
authors.initials: VH
authors.lastname: Yong
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Tuft
authors.forename: Deepa
authors.initials: D
authors.lastname: Viswanathan
authors.forename: Mohamed F
authors.initials: MF
authors.lastname: El-Ashry
authors.forename: Petra
authors.initials: P
authors.lastname: Liskova
authors.forename: Donald T H
authors.initials: DT
authors.lastname: Tan
authors.forename: Shomi S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: Govindasamy
authors.initials: G
authors.lastname: Kumaramanickavel
authors.forename: Eranga N
authors.initials: EN
authors.lastname: Vithana
mesh_terms: D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D003316:Corneal Diseases / Q000235:genetics*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007194:India; D009154:Mutation; D014481:United States
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; C425809:SLC4A11 protein, human