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

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.

A Census of Human Soluble Protein Complexes

“…The link to RAD21 provides a likely explanation for the occasional overlap of Langer-Giedion Syndrome (LGS) clinical presentation with CdLS, as all LGS patients are at least partially defective for RAD21 [see e.g. (McBrien et al, 2008; Wuyts et al, 2002)]. Similarly, RAD18, a homolog of SMC3 and SMC1A, may play a role in CdLS, consistent with unmapped CdLS deletions within chromosome 3p25 (DeScipio et al, 2005).…”

“…This association may explain similarities in clinical presentation between CdLS and Langer-Giedion syndrome, as the latter patients routinely harbor RAD21 deletions, e.g. (McBrien et al, 2008; Wuyts et al, 2002). B- Confirmation of ribosome biogenesis candidate (orange) associations with annotated components (blue) by AP/MS analysis of tagged proteins (top).…”

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

“…In literature several patients have been published as having TRPS II but without deletion of TRPS1 [Pereza et al, 2012;McBrien et al, 2008, Wuyts et al, 2002. We re-evaluated the findings in these patients and question the diagnosis TRPS in all of these.…”

Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

“…Six cases with interstitial deletion delimited by aCGH on the 8q23.3–q24.1 region, ranging from 25·93 to 1·47 mb, have been reported . Heterozygous defects of the TRPS1 , RAD21 or EXT1 genes cause TRPS I, Cornelia de Lange syndrome 4 or multiple exostoses, respectively; our proband harboured features observed in these diseases.…”