| Autor: |
PORAYETTE, PRASHOB, FRUITMAN, DEBORAH, LAUZON, JULIE L., GOFF, CARINE LE, CORMIER-DAIRE, VALÉRIE, SANDERS, STEPHEN P., PINTO-ROJAS, ALFREDO, PEREZ-ATAYDE, ANTONIO R. |
| Předmět: |
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| Zdroj: |
Pediatric & Developmental Pathology; May/Jun2014, Vol. 17 Issue 3, p209-216, 8p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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