Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

ABSTRACT:

Aim

To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family.

Methods

Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patients. Sanger sequencing was utilized to validate the presence of variation in the family as well as in 100 normal controls. Real-time quantitative polymerase chain reaction (PCR) was used to detect the expression level of COL18A1 in peripheral blood lymphocytes of the patients and normal carriers.

Results

The affected subjects presented with vision loss, exotropia, cataracts, retinal detachment, and other complications. A homozygous c.4759_4760delCT (p.Leu1587ValfsX72) mutation (rs398122391) in COL18A1 was identif

SUBMITTER: Zhang LS 

PROVIDER: S-EPMC6010381 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature