Metaphyseal chondrodysplasia McKusick type in a Chinese fetus,caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene |
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Authors: | Albert C F Lam Daniel H C Chan Tony M F Tong Mary H Y Tang Steven Y F Lo Ivan F M Lo Stephen T S Lam |
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Institution: | 1. Clinical Genetic Service, Department of Health, HKSAR Government, Hong Kong;2. Prenatal Diagnostic & Counselling Centre, Tsan Yuk Hospital, HK;3. Department of Obstetrics & Gynaecology, PYNEH, HK |
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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. Copyright © 2006 John Wiley & Sons, Ltd. |
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Keywords: | metaphyseal chondrodysplasia McKusick type cartilage-hair hypoplasia RMRP gene skeletal dysplasia |
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