Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.

The clinical use of array comparative genomic hybridization (array CGH) has allowed the identification of very rare deletion and duplication disorders, such as 5q12 deletion syndrome (OMIM 615668) described as a contiguous gene deletion syndrome of chromosome 5q12. Chromosome microdeletions including band 5q12 have rarely been reported and have been associated with different phenotypes showing postnatal growth restriction, intellectual disability, epileptic seizures, hyperactivity, and ocular abnormalities. In this study, we describe a family in which array-CGH analysis revealed the presence of an interstitial microdeletion spanning approximately 2.9 Mb in the 5q12 region. The microdeletion is associated with epilepsy in the father and 2 siblings (a boy and a girl). So far, this is the first report in which a familial microdeletion 5q12 manifests in epilepsy. We suggest that this familial microdeletion could delineate a locus for susceptibility to epilepsy.

Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.

The small interstitial deletion in the long arm of chromosome 15 causing Prader-Willi/Angelman syndrome is well known, whereas cases that report terminal deletions in 15q in association with the Prader-Willi-like phenotype are very rare. By using GTG-banding analysis, metaphase FISH, MLPA analysis, and genome-wide array CGH, we detected an unbalanced translocation involving a microdeletion of the distal part of 15q and a microduplication of the distal part of 18q. The unbalanced translocation was found in a boy that was referred with clinical suspicion of Prader-Willi syndrome. In the 15q-deleted region, 23 genes have been identified, and 13 of them are included in the OMIM database. Among these, the deleted IGFR1, MEF2A, CHSY1, and TM2D3 genes could contribute to the patient's phenotype. Seven genes are included in the duplicated chromosome segment 18q, but only one (CTDP1) is present in the OMIM database. We suggest that the deleted chromosome segment 15q26.2qter may be responsible for the phenotype of our case and may also be a candidate locus of Prader-Willi-like syndrome.

A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.

BACKGROUND: Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identified is EIF2AK4, which encodes for a translation initiation factor. However, not all PCH cases might carry a mutation in this gene. CASE PRESENTATION: We report the clinical and cytogenetic characterization of a patient (male, newborn, first child of healthy non-consanguineous parents) died after three days of life with severe neonatal pulmonary hypertension, due to diffuse capillary hemangiomatosis diagnosed post mortem. Conventional karyotyping, Microarray-Based Comparative Genomic Hydridization (CGHa) and quantitative PCR were performed. CGHa revealed a heterozygous chromosome 16q23.3q24.1 interstitial deletion, spanning about 2.6 Mb and involving a FOXF1 gene enhancer. Quantitative PCR showed that the proband's deletion was de novo. Microsatellite analysis demonstrate that the deletion occurred in the maternal chromosome 16. CONCLUSION: FOXF1 loss of function mutation have been so far identified in alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a lung disease different from PCH. Our data suggest the hypothesis that disruption of the FOXF1 gene enhancer could be a genetic determinant of PCH. Moreover, our findings support the idea that FOXF1 is a paternally imprinted gene.

Retinal vein occlusion: evaluation of "classic" and "emerging" risk factors and treatment.

Retinal vein occlusion (RVO) is the second most common retinal vein disease and an important cause of blindness and visual morbidity. Systemic risk factors are commonly associated with RVO, while unclear it is the role of the thrombophilic and coagulation disorders. To evaluate "classic" and "emerging" risk factors, and to establish a good treatment for RVO. Fifty patients, 31 males and 19 females, with RVO were selected for our study. RVO patients were divided into two groups: those with central retinal vein occlusion (CRVO) and those with branch retinal vein occlusion (BRVO). All patients were subjected to an anamnestic investigation and were tested for thrombophilia, coagulation disorders and hyperlipidemia. Treatment and prophylaxis were evaluated. We have named "classic" the systemic risk factors associated with RVO and "emerging" those risk factors, haemostasis related, not clearly associated with RVO. RVO occurs more commonly in patients aged over 50. "Emerging" risk factors were more frequent in CRVO, "classic" in BRVO. Hyperhomocysteinemia is the most common "emerging" risk factor related to RVO. 71.4% of tested patients had hypercholesterolemia. Treatment with LMWH would appear to be safe and effective, but the small number of patients considered not allow us a definitive evaluation of its efficacy. Although our study has shown the correlation between RVO and the "emerging" risk factors, more studies are necessary to better know the real role of thrombophilic and coagulation disorders in this disease and to determine a specific protocol for the treatment and prophylaxis of RVO.

WITHDRAWN: Retinal vein occlusion: Risk factors evaluation, treatment and prophylaxis.

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