Conflict of interest: none.
The phenotype range of achondrogenesis 1A
Article first published online: 16 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 10, pages 2554–2558, October 2013
How to Cite
2013. The phenotype range of achondrogenesis 1A. Am J Med Genet Part A 161A:2554–2558., , , , , , .
Giedre Grigelioniene, Stefan Geiberger, Ann Nordgren, and Peter Conner contribute equally to this work.
- Issue published online: 17 SEP 2013
- Article first published online: 16 AUG 2013
- Manuscript Accepted: 6 JUN 2013
- Manuscript Received: 11 MAY 2013
- Stiftelsen Samariten
- Sabbatical Leave Programme of the European Society for Paediatric Endocrinology through an educational grant from Eli Lilly International Corporation
- achondrogenesis 1A;
- lethal skeletal dysplasia;
- short ribs;
- unossified vertebral bodies
Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance. ACG1A is caused by mutations in the TRIP11 gene, resulting in deficiency of the Golgi microtubule associated protein 210. In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene. In addition, another patient with a milder manifestation, not readily distinguishable from those of other lethal skeletal dysplasias, was found to be a compound heterozygote for a nonsense mutation and a deletion of the 3′ end of the TRIP11 gene. We conclude that mutations of the TRIP11 gene may encompass a wider phenotypic range than previously recognized. © 2013 Wiley Periodicals, Inc.