A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2).
COLI 1 and COLI 2 genes
balanced translocation
fetal autopsy
osteogenesis imperfecta type II
Journal
Fetal and pediatric pathology
ISSN: 1551-3823
Titre abrégé: Fetal Pediatr Pathol
Pays: England
ID NLM: 101230972
Informations de publication
Date de publication:
Jun 2019
Jun 2019
Historique:
pubmed:
4
4
2019
medline:
18
12
2019
entrez:
4
4
2019
Statut:
ppublish
Résumé
Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractures, severe bowing and shortening of long bones, and perinatal death due to respiratory insufficiency. It is mainly caused by mutations in the COL1A1 or COL1A2 genes, inherited in an autosomal dominant manner. A fetal form of this disorder that included brachydactyly, macrocephaly, frontal bossing, soft calvarium, saddle nose, micrognathia, low set ears, and narrow thoracic cavity is described. A postmortem skeletal survey revealed multiple fractures, unossified skull, and long crumpled bones. The fetal karyotype revealed a balanced translocation t(1;20)(p13;p11.2). DNA sequencing detected a c.3065G > T transversion in exon 42 of the COL1A1 gene, a mutation associated with OI type II. Although the balanced translocation t(1:20)(p13;p11.2) appears to be incidental in our case, identification of the specific mutation and translocation is important for estimation of genetic risk for another afflicted child.
Sections du résumé
BACKGROUND
BACKGROUND
Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractures, severe bowing and shortening of long bones, and perinatal death due to respiratory insufficiency. It is mainly caused by mutations in the COL1A1 or COL1A2 genes, inherited in an autosomal dominant manner.
CASE REPORT
METHODS
A fetal form of this disorder that included brachydactyly, macrocephaly, frontal bossing, soft calvarium, saddle nose, micrognathia, low set ears, and narrow thoracic cavity is described. A postmortem skeletal survey revealed multiple fractures, unossified skull, and long crumpled bones. The fetal karyotype revealed a balanced translocation t(1;20)(p13;p11.2). DNA sequencing detected a c.3065G > T transversion in exon 42 of the COL1A1 gene, a mutation associated with OI type II.
CONCLUSION
CONCLUSIONS
Although the balanced translocation t(1:20)(p13;p11.2) appears to be incidental in our case, identification of the specific mutation and translocation is important for estimation of genetic risk for another afflicted child.
Identifiants
pubmed: 30942118
doi: 10.1080/15513815.2019.1579877
doi:
Substances chimiques
Collagen Type I
0
Collagen Type I, alpha 1 Chain
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM