Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family

Background In this case report, we have described congenital inherited endothelial dystrophy (CHED) caused by two heterozygous missense mutations in two patients. Methods A Chinese family affected by CHED was recruited to identify potential genetic mutations. The proband developed bilateral corneal opacity after birth, and was diagnosed with CHED based on the clinical manifestations. Her younger sister had the same symptoms. Blood samples were collected from four members of the family, including the two sisters and their parents, and full exon sequencing (WES) was used to identify potential genetic mutations in the proband. To verify the identified mutations, Sanger sequencing was performed on samples from other family members. Results Two heterozygous missense variants were found in SLC4A11, a variant NM_032034.4; c.1237 G > A (p.G413R, rs1286683365) in exon 10 and a variant NM_032034.4, c. 698 G > T (p.R233L) in exon 6, and the latter was reported for the first time in this disease. Bioinformatics tools, such as SIFT and PolyPhen, showed that changes in these two amino acids probably affected protein function. Conclusions This study reported the typical clinical symptoms of CHED caused by two heterozygous missense variants (c.1237 G > A and c. 698 G > T) in the SLC4A11 gene in a Chinese family.