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Am J Med Genet A. 2013 Oct;161A(10):2554-8. doi: 10.1002/ajmg.a.36106. Epub 2013 Aug 16.

The phenotype range of achondrogenesis 1A.

Author information

1
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Abstract

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.

KEYWORDS:

TRIP11; achondrogenesis 1A; lethal skeletal dysplasia; short ribs; unossified vertebral bodies

PMID:
23956106
DOI:
10.1002/ajmg.a.36106
[Indexed for MEDLINE]

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