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First Author: J.Kim SOUTH KOREA
Co Author(s): J. Ko H. Tchah
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Congenital hereditary endothelial dystrophy (CHED) is a rare genetic disorder caused by mutations in corneal endothelial cells, which is characterized by bilateral symmetric corneal opacity and edema. CHED can be divided into 2 types by the modes of inheritance; CHED type 1 (CHED1) with autosomal dominant inheritance and CHED type 2 (CHED2) with autosomal recessive inheritance. It is known that CHED2 is caused by genetic mutations in the sodium bicarbonate transporter-like solute carrier family 4 member 11 (SLC4A11) gene.
Chungbuk National University Hospital, Seoul National Hospital
Peripheral blood of the suspected patient (37 years old female) and her family members was obtained under informed consents. Genomic DNA was extracted in their WBCs, and whole exons and exon-intron boundaries of the SLC4A11 gene were amplified using polymerase chain reaction. The amplified materials were analyzed by direct sequencing method.
The sequencing results of the SLC4A11 gene in the suspected patient with CHED phenotype showed a novel homozygotic mutation in exon 9 (c.1158C>A, p.C386X). Her father and sister showing normal cornea harbored the mutation heterozygously. Her mother showing corneal guttatae and normal corneal thickness also had the same mutation heterozygously.
We report a novel mutation of the SLC4A11 gene in one kindred suspected with congenital hereditary endothelial dystrophy type 2. In addition, the heterozygotic mutation of the SLC4A11 gene found in the one family member with corneal guttatae suggests that this gene might be related with Fuchs corneal dystrophy featured with corneal guttatae.