Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship.
OBJECTIVE
The aim of this study was to examine the carbohydrate sulfotransferase 6 (CHST6) gene for mutations in a sibship with both macular corneal dystrophy (MCD) types I and II.


METHODS
Clinically relevant laboratory investigation.


METHODS
The coding region of the CHST6 gene was examined for mutations.


RESULTS
In one sibling, MCD type I was due to a homozygous C1110T (Arg140end) mutation in CHST6. Two MCD type II individuals exhibited three heterozygous nucleotide changes: C1110T, G1360A (Gly223Asp), and G1685T (Gln331His). Analysis of the upstream region was performed on one individual with MCD type II, and no upstream deletion or substitution was found.


CONCLUSIONS
These findings fit the haplotype analysis that we reported previously and indicate that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II.
Liu
Ning-Pu
NP
Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA.
Bao
Wenjun
W
Smith
Clayton F
CF
Vance
Jeffery M
JM
Klintworth
Gordon K
GK
D018389:Codon, Nonsense; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D035781:Siblings; D015238:Sulfotransferases / Q000235:genetics*; D000097811:Carbohydrate Sulfotransferases
D018389:Codon, Nonsense; D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases