Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion

Jacqueline McBrien; John Anthony Crolla; Shuwen Huang; Jerry Kelleher; John Gleeson; Sally Ann Lynch

doi:10.1002/ajmg.a.32347

Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion

Am J Med Genet A. 2008 Jun 15;146A(12):1587-92. doi: 10.1002/ajmg.a.32347.

Authors

Jacqueline McBrien¹, John Anthony Crolla, Shuwen Huang, Jerry Kelleher, John Gleeson, Sally Ann Lynch

Affiliation

¹ Our Lady's Children's Hospital, National Centre for Medical Genetics, Dublin, Ireland.

PMID: 18478595
DOI: 10.1002/ajmg.a.32347

Abstract

Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome.

2008 Wiley-Liss, Inc.

Publication types

Case Reports

MeSH terms

Adipose Tissue / abnormalities
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 8 / genetics*
DNA-Binding Proteins / genetics*
Exostosin 1
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Langer-Giedion Syndrome / diagnosis*
Langer-Giedion Syndrome / diagnostic imaging
Langer-Giedion Syndrome / genetics*
Male
N-Acetylglucosaminyltransferases / genetics*
Oligonucleotide Array Sequence Analysis
Phenotype
Radiography
Repressor Proteins
Toes / abnormalities
Transcription Factors / genetics*

Substances

DNA-Binding Proteins
Repressor Proteins
TRPS1 protein, human
Transcription Factors
N-Acetylglucosaminyltransferases
Exostosin 1