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Tassano E.,Laboratorio Of Citogenetica | De Santis L.R.,SSD Genetica Medica | Corona M.F.,SS Neonatologia Fisiologica | Parmigiani S.,Science Pediatria e Neonatologia | And 4 more authors.
Molecular Cytogenetics | Year: 2015

Background: Rare copy number variations (CNVs) are today recognized as an important cause of various neurodevelopmental disorders, including mental retardation and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. Results: Here we describe a patient with epilepsy, mental retardation, developmental disorders, and dysmorphic features, who inherited a deletion of 16p13.11 and a triplication of 19p13.3 from his father and mother, respectively. The mother presented mild mental retardation and language delay too. Conclusions: We discuss the phenotypic consequences of the two CNVs and suggest that their synergistic effect is likely responsible for the complicated clinical features observed in our patient. © 2015 Tassano et al.; licensee BioMed Central.

Siri L.,Science Pediatria e Neonatologia | Rossi A.,Servizio di Neuroradiologia Pediatrica | Lanza F.,Centro Of Diagnostica Genetica E Biochimica Delle Malattie Metaboliche | Mazzotti R.,Centro Of Diagnostica Genetica E Biochimica Delle Malattie Metaboliche | And 6 more authors.
Neurogenetics | Year: 2014

Prosaposin (PSAP) gene mutations, affecting saposin B (Sap-B) domain, cause a rare metachromatic leukodystrophy (MLD) variant in which arylsulfatase A (ARSA) activity is normal. To date, only 10 different PSAP mutations have been associated with a total of 18 unrelated MLD patients worldwide. In this study, we report for the first time a family with Moroccan origins in which the proband, presenting with a late-infantile onset of neurological involvement and a brain MRI with the typical tigroid MLD pattern, showed normal values of ARSA activity in the presence of an abnormal pattern of urinary sulfatides. In view of these findings, PSAP gene was analyzed, identifying the newly genomic homozygous c.909 + 1G > A mutation occurring within the invariant GT dinucleotide of the intron 8 donor splice site. Reverse transcriptase-polymerase chain reaction (RT-PCR), showing the direct junction of exon 7 to exon 9, confirmed the skipping of the entire exon 8 (p.Gln260-Lys303) which normally contains two cysteine residues (Cys271 and Cys265) involved in disulfide bridges. Our report provides further evidence that phenotypes of patients with Sap-B deficiency vary widely depending on age of onset, type, and severity of symptoms. Awareness of this rare MLD variant is crucial to prevent delayed diagnosis or misdiagnosis and to promptly provide an accurate genetic counseling, including prenatal diagnosis, to families. © 2014 Springer-Verlag Berlin Heidelberg.

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