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.

journal_name

Prenat Diagn

journal_title

Prenatal diagnosis

authors

Lam AC,Chan DH,Tong TM,Tang MH,Lo SY,Lo IF,Lam ST

doi

10.1002/pd.1547

subject

Has Abstract

pub_date

2006-11-01 00:00:00

pages

1018-20

issue

11

eissn

0197-3851

issn

1097-0223

journal_volume

26

pub_type

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