Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families.
OBJECTIVE
To identify the genetic defect in the TACSTD2 gene that causes gelatinous drop-like corneal dystrophy (GDLD) in two unrelated consanguineous Chinese families.


METHODS
Genomic DNA was prepared from leukocytes of peripheral venous blood. The coding region of the TACSTD2 gene was evaluated by means of polymerase chain reaction and direct sequencing.


RESULTS
Sequencing of the TACSTD2 gene of the two probands revealed two novel homozygous frameshift mutations: c.84insG and c.480delC. The identified molecular defect cosegregates with the disease among affected members of the families and is not found in 50 unaffected controls.


CONCLUSIONS
This study reports two novel mutations in two GDLD families and expands the spectrum of mutations in TACSTD2 gene that may cause pathological corneal amyloidosis.
Zhang
Bei
B
Department of Ophthalmology, Affiliated Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Zhejiang, PR China.
Yao
Yu-Feng
YF
Zhou
Ping
P
D000293:Adolescent; D000328:Adult; D000368:Aged; D000951:Antigens, Neoplasm / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002681:China; D003062:Codon; D018388:Codon, Terminator; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D003596:Cytosine; D004251:DNA Transposable Elements; D003710:Demography; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006147:Guanine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D000951:Antigens, Neoplasm; D015815:Cell Adhesion Molecules; D003062:Codon; D018388:Codon, Terminator; D004251:DNA Transposable Elements; C499380:TACSTD2 protein, human; D006147:Guanine; D003596:Cytosine