title: Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.
abstract: OBJECTIVE
  To report the clinical and genetic findings of Vietnamese families affected with macular corneal dystrophy (MCD) in 2 generations.
  
  
  METHODS
  Two families, including 7 patients and 3 unaffected members, were examined clinically. Blood samples were collected. Fifty normal Vietnamese individuals were used as controls. Genomic DNA was extracted from leukocytes. Analysis of the carbohydrate sulfotransferase (CHST6) gene was performed using polymerase chain reaction and direct sequencing.
  
  
  RESULTS
  The typical form of MCD was recognized in family B, in which sequencing of CHST6 gene revealed an nt 1067-1068ins(GGCCGTG) mutation (frameshift after 125V) homozygously in MCD patients and heterozygously in the unaffected members. Family N also showed clinical features of MCD, moderate in the mother but severe in the affected son. Sequencing revealed a single heterozygous Arg211Gln in the mother, compound heterozygous Arg211Gln+ Gln82Stop in the affected son, and heterozygous Arg211Gln mutation in the unaffected members. The identified mutations in these pedigrees were excluded from normal controls.
  
  
  CONCLUSIONS
  The novel frameshift and compound heterozygous mutations might be responsible for MCD in the families studied. The phenotypic variation between affected parents and offspring was unclear. In family N, severe MCD phenotype seen in the affected son may be due the fact that he had an early stop codon mutation (Gln82Stop).
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. hant02@yahoo.com
authors.forename: Nguyen Thanh
authors.initials: NT
authors.lastname: Ha
authors.forename: Hoang Minh
authors.initials: HM
authors.lastname: Chau
authors.forename: Le Xuan
authors.initials: le X
authors.lastname: Cung
authors.forename: Ton Kim
authors.initials: TK
authors.lastname: Thanh
authors.forename: Keiko
authors.initials: K
authors.lastname: Fujiki
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Yoshimune
authors.initials: Y
authors.lastname: Hiratsuka
authors.forename: Nobuko
authors.initials: N
authors.lastname: Hasegawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine; D001483:Base Sequence / Q000235:genetics; D016022:Case-Control Studies; D018388:Codon, Terminator; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D005973:Glutamine; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D015238:Sulfotransferases / Q000235:genetics*; D014744:Vietnam; D000097811:Carbohydrate Sulfotransferases
chemical_list: D001120:Arginine; D018388:Codon, Terminator; D005973:Glutamine; D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases