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Novel mutations in geleophysic dysplasia type 1.

Prashob Porayette¹, Deborah Fruitman, Julie L Lauzon

¹1 Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

|November 21, 2013

Summary

Geleophysic dysplasia (GD) is a rare genetic disorder. This study details a child with GD caused by novel ADAMTSL2 gene mutations, revealing potential new associations like hydrocephalus and aggressive cardiac issues.

Keywords:

ADAMTSL2 congenital heart disease geleophysic dysplasia

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Area of Science:

Genetics
Pediatrics
Rare Diseases

Background:

Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia.
GD type 1 is autosomal recessive, linked to ADAMTSL2 gene mutations.
GD type 2 is autosomal dominant, linked to FBN1 gene mutations.

Observation:

Clinical and histopathologic findings of a child with GD are presented.
Two novel ADAMTSL2 gene mutations were identified: c.[1934G>A] p.[Arg645His] in exon 13 and a splice site mutation in intron 8.
Histopathologic findings were consistent with previous descriptions.

Findings:

Hydrocephalus secondary to aqueductal stenosis may be a newly associated finding in GD patients.
The child exhibited an aggressive clinical course with early-onset progressive cardiac valvular disease.
Novel ADAMTSL2 mutations were identified in the affected child.

Implications:

This study expands the understanding of Geleophysic dysplasia genetics and clinical manifestations.
The identification of novel mutations and associated findings like hydrocephalus and cardiac issues can aid in diagnosis and management.
Further research into ADAMTSL2 gene function and its role in skeletal and cardiovascular development is warranted.