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Case Reports
. 2011 Feb;19(2):239-42.
doi: 10.1038/ejhg.2010.172. Epub 2010 Dec 1.

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

Marcella Zollino  1 , Fiorella Gurrieri, Daniela Orteschi, Giuseppe Marangi, Vincenzo Leuzzi, Giovanni Neri
Affiliations
Case Reports

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

Marcella Zollino et al. Eur J Hum Genet. 2011 Feb.

Abstract

A de novo 0.3 Mb deletion on 6p21.3 was detected by array-comparative genomic hybridization in a girl with mental retardation, drug-resistant seizures, facial dysmorphisms, gut malrotation and abnormal pancreas segmentation. Consistent with phenotypic manifestations is haploinsufficiency of SYNGAP1, which was recently demonstrated to cause non-syndromic mental retardation, and of the flanking genes CuTA, a likely modulator of the processing and trafficking of secretory proteins in the human brain, and hPHF1, involved in HOX gene silencing. Mutations of both CuTA and hPHF1 were never reported as causative of human diseases. Similarly, the present syndromic condition was not previously described and it can be regarded as a human model confirming the suggested biological properties of the genes included in the deletion interval. In addition, experimental evidence that SYNGAP1 and CuTA are involved in the secretory pathway in neurons, through glutamate and acetylcholinesterase signalling, prompted us to consider modulation of the glutamate pathway as target of a therapeutic strategy for seizure control.

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Figures

Figure 1
Figure 1
Frontal and lateral view of the patient.
Figure 2
Figure 2
(a) Map of the deleted 300-kb -region within 6p21.3. Genes involved in the rearrangement are shown. Grey squares refer to genes not considered to be relevant for the phenotype. Black squares refer to pathogenic genes. (b) Graphical overview of the results obtained by array-CGH analysis. Included in the deletion interval (grey rectangle) are seven known genes. (c) FISH results on metaphase chromosomes with BAC probe RP11.175A4 containing SYNGAP1. Only one signal is present.
See this image and copyright information in PMC

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