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Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2)
Author(s) -
Ramprasad Vedam L.,
Ebenezer Neil D.,
Aung Tin,
Rajagopal Rama,
Yong Victor H.K.,
Tuft Stephen J.,
Viswanathan Deepa,
ElAshry Mohamed F.,
Liskova Petra,
Tan Donald T.H.,
Bhattacharya Shomi S.,
Kumaramanickavel Govindasamy,
Vithana Eranga N.
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9487
Subject(s) - missense mutation , genetics , biology , compound heterozygosity , corneal dystrophy , nonsense mutation , nonsense , mutation , gene , nystagmus , medicine , cornea , neuroscience , radiology
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. © 2007 Wiley‐Liss, Inc.