title: Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene.
abstract: We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.1018 T> C mutations, two heterozygous insertion mutations g.799_g.800insC and one heterozygous insertion mutation g.849_g.850insT were found among 100 normal controls. Careful radiological examination of the fetus for skeletal dysplasia allowed definitive diagnosis, proper genetic counselling and future prenatal diagnosis.
authors.affiliation: Clinical Genetic Service, Department of Health, HKSAR Government, Hong Kong. acfl8@yahoo.com
authors.forename: Albert C F
authors.initials: AC
authors.lastname: Lam
authors.forename: Daniel H C
authors.initials: DH
authors.lastname: Chan
authors.forename: Tony M F
authors.initials: TM
authors.lastname: Tong
authors.forename: Mary H Y
authors.initials: MH
authors.lastname: Tang
authors.forename: Steven Y F
authors.initials: SY
authors.lastname: Lo
authors.forename: Ivan F M
authors.initials: IF
authors.lastname: Lo
authors.forename: Stephen T S
authors.initials: ST
authors.lastname: Lam
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D004722:Endoribonucleases / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D011247:Pregnancy; D017422:Sequence Analysis, DNA
chemical_list: D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease