Novel Mutations in Geleophysic Dysplasia Type 1

作者：Porayette Prashob; Fruitman Deborah; Lauzon Julie L; Le Goff Carine; Cormier Daire Valerie; Sanders Stephen P; Pinto Rojas Alfredo; Perez Atayde Antonio R^*

来源：Pediatric and Developmental Pathology, 2014, 17(3): 209-216.

DOI：10.2350/13-08-1370-CR.1

• ADAMTSL2
• congenital heart disease
• geleophysic dysplasia

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.

• 出版日期2014-6