Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
American Journal of Medical Genetics. Part A
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Achondrogenesis type II (ACG2) is the most severe disorder that can be produced by dominant mutations in COL2A1. We report on four pregnancies of an apparently healthy, nonconsanguineous young couple. The father had scoliosis as a child, and has slight body disproportion with short trunk. The first child was born at 32 weeks and died neonatally. In the second pregnancy, short limbs and fetal hygroma were noted on ultrasound at 17 weeks' gestation. Similar findings were observed in the third fetus. Clinical, radiological, and histological evaluation of the fetuses after termination of the pregnancies showed findings consistent with ACG2. Molecular analysis of genomic DNA extracted from amniotic cells of the second and third fetuses revealed heterozygosity for a 10370G > T missense mutation (G346V) in the COL2A1 gene. This mutation was also found in the father, as a mosaic. The couple had a fourth pregnancy, and at 11 weeks fetal hydrops with a septated cystic hygroma were obvious. DNA from CVS demonstrated the same COL2A1 mutation.
Adult, Base Sequence, Collagen Type II/genetics, DNA Primers, Female, Genes, Dominant, Humans, Infant, Newborn, Male, Mosaicism, Mutation, Osteochondrodysplasias/genetics, Pregnancy, Ultrasonography, Prenatal
Web of science
Last modification date