Journal article
Novel Mutations in Geleophysic Dysplasia Type 1
Pediatric and developmental pathology, Vol.17(3), pp.209-216
05/01/2014
DOI: 10.2350/13-08-1370-CR.1
PMID: 24251637
Abstract
Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. Geleophysic dysplasia type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene. Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 (FBN1) gene. Here, we present the clinical and histopathologic findings in a child with GD with newly identified ADAMTSL2 mutations. The 1st mutation was probably a pathogenic one, c.[1934G>A] p.[Arg645His], located in exon 13; the 2nd, in intron 8, was probably changing a splice site. While the light and electron microscopic findings were similar to those previously described, hydrocephalus due to aqueductal stenosis might be a new associated finding in these patients. This child with these 2 novel mutations also had an aggressive clinical course with early-onset progressive cardiac valvular disease.
Details
- Title: Subtitle
- Novel Mutations in Geleophysic Dysplasia Type 1
- Creators
- Prashob Porayette - Boston Children's HospitalDeborah Fruitman - Alberta Children's HospitalJulie L. Lauzon - Alberta Children's HospitalCarine Le Goff - Institut Necker Enfants MaladesValerie Cormier-Daire - Alberta Children's HospitalStephen P. Sanders - Boston Children's HospitalAlfredo Pinto-Rojas - Alberta Children's HospitalAntonio R. Perez-Atayde - Boston Children's Hospital
- Resource Type
- Journal article
- Publication Details
- Pediatric and developmental pathology, Vol.17(3), pp.209-216
- Publisher
- Alliance Communications Group Division Allen Press
- DOI
- 10.2350/13-08-1370-CR.1
- PMID
- 24251637
- ISSN
- 1093-5266
- eISSN
- 1615-5742
- Number of pages
- 8
- Language
- English
- Date published
- 05/01/2014
- Academic Unit
- Cardiology; Stead Family Department of Pediatrics; Internal Medicine
- Record Identifier
- 9984353882802771
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