Genomes and Genes
Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
- A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) lociEmilia Bellone
Department of Oncology, Biology and Genetics, University of Genoa, Viale Benedetto XV, 6 16132 Genoa, Italy
Neuromuscul Disord 12:286-91. 2002....
- Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 lociMassimo Mangino
Am J Med Genet A 116:312-4. 2003
- Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanismAntonio Pizzuti
Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy
Ann Neurol 53:396-9. 2003..This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out...
- A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotypeAntonio Pizzuti
Ospedale Casa Sollievo della Sofferenza and Istituto CSS Mendel, Roma, Italy
Hum Mutat 23:286. 2004..R76S) leads to a complete dominant ODDD phenotype. A case of full-blown HSS phenotype was also analysed but GJA1 mutations were not found. GJA1 homozygous hypomorphic mutations can result in a phenotype in the HSS/ODDD spectrum...
- Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of FallotAntonio Pizzuti
Dipartimento di Medicina Sperimentale e Patologia, Universita di Roma La Sapienza, Rome, Italy
Hum Mutat 22:372-7. 2003..ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF...
- Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutationsM Cristina Digilio
Medical Genetics, Bambino Gesu Hospital, Rome, Italy
Birth Defects Res A Clin Mol Teratol 70:95-8. 2004..Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q24, have been identified in patients with LEOPARD syndrome...
- Functional analysis of splicing mutations in exon 7 of NF1 geneIrene Bottillo
IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
BMC Med Genet 8:4. 2007..Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to missplicing...
- A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndromeAnna Sarkozy
CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy
Eur J Hum Genet 12:1069-72. 2004..This observation joins together NS and LS to NLS into a unique genetic defect, broadening the clinical and molecular spectrum of PTPN11-related disorders...
- Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromesAnna Sarkozy
IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy
Am J Med Genet A 143:1009-11. 2007
- Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletionAntonio Pizzuti
Department of Experimental Medicine, Sapienza University, Rome, Italy
Neurogenetics 12:233-40. 2011..Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder...
- ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresiaAnna Sarkozy
CSS Hospital, IRCCS, San Giovanni Rotondo, Italy CSS Mendel Institute, Rome, Italy
Am J Med Genet A 133:68-70. 2005..No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt...
- Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMaria Cristina Digilio
Division of Medical Genetics, Bambino Gesu Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy
Am J Hum Genet 71:389-94. 2002..The detected mutations suggest that distinct molecular and pathogenetic mechanisms cause the peculiar cutaneous manifestations of the ML/LEOPARD-syndrome subtype of NS...
- NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca
CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
Am J Hum Genet 77:1092-101. 2005..These results support the view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals...
- Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific bindingViviana Caputo
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy
PLoS ONE 6:e28656. 2011..In conclusion, in the present study we identified two novel miRNAs regulating BDNF expression and the first BDNF 3'UTR functional variants altering miRNAs-BDNF binding...
- Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeClaudio Carta
Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
Am J Hum Genet 79:129-35. 2006....
- Mitochondrial disfunction as a cause of ALSAntonio Pizzuti
Università di Roma Sapienza Dipartimento di Medicina Sperimentale, Istituto CSS Mendel, Rome, Italy
Arch Ital Biol 149:113-9. 2011..The article briefly addresses recent advances on this field...
- Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11Leila Baghernajad Salehi
Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
Hum Genet 111:401-4. 2002..We scored genes mapping in this interval and studied the heparan sulfotransferase genes as candidates on the basis of their biochemical role. No causative mutation was detected in the affected patients...
- Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsyAntonio Suppa
Department of Neurological Sciences, Sapienza University of Rome, Rome, Italy
Epilepsia 50:1284-8. 2009..Linkage analysis excluded the 8q24 locus, where patients shared a common haplotype spanning 14.5 Mb in the pericentromeric region of chromosome 2...
- DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 geneEmanuela Conti
CSS Hospital, IRCCS, San Giovanni Rotondo, Italy
Eur J Hum Genet 11:349-51. 2003..Besides a few polymorphisms, we did not find any pathogenetic variation. These results do not support a major role of the TBX1 gene as responsible for human nonsyndromic CTDs...
- Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystoniaFrancesco Brancati
Istituto C.S.S. Mendel, Rome, Italy
Mov Disord 17:392-7. 2002..These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family...
- HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typingFrancesca Megiorni
Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena, 324 Rome, Italy
J Biomed Sci 19:88. 2012....
- Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjectsBarbara Mora
Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Rome, Italy
Hum Immunol 66:716-20. 2005..Homozygosity for the 6A allele appears as a risk factor for CD only in men, which is different from the HLA susceptibility alleles that confer a higher risk in women...
- Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific bindingFrancesca Megiorni
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy
PLoS ONE 6:e26601. 2011..001). This is one of the first in vitro studies implicating microRNAs as negative regulators of the CFTR gene expression. miRNA aberrant expression and function might explain the wide phenotypic variability observed among CF patients...
- Mutations of the Nogo-66 receptor (RTN4R) gene in schizophreniaLorenzo Sinibaldi
IRCCS C S S San Giovanni Rotondo, 00198 Rome, Italy
Hum Mutat 24:534-5. 2004..Both missense changes were absent in 300 control subjects. Molecular modeling revealed that both changes lead to putative structural alterations of the native protein...
- Cytogenetic mapping of a novel locus for type II Waardenburg syndromeAngelo Selicorni
IRCCS E. Medea, Associazione La Nostra Famiglia, Bosisio Parini, Italy
Hum Genet 110:64-7. 2002..The only cloned gene for WS2 is that for microphtalmia (MITF) on chromosome 3p. In this family, MITF mutations were excluded by sequencing the whole coding region. The 8p23 region may represent a third locus for WS2 (WS2C)...
- Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremorSimona Pigullo
Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy
Parkinsonism Relat Disord 10:357-62. 2004..To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET)...
- Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control studyEmilio Di Maria
Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa, c o DIMI Viale Benedetto XV 6, 16132 Genoa, Italy
Am J Med Genet B Neuropsychiatr Genet 128:27-9. 2004..04). These results suggest that GRIN2B variations might be linked with susceptibility to schizophrenia. Replication studies on larger samples are warranted to further test this hypothesis...
- Hyperthrophic cardiomyopathy and the PTPN11 geneAnna Sarkozy
Am J Med Genet A 136:93-4. 2005
- CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defectsAnna Sarkozy
Am J Med Genet A 139:236-8. 2005
- An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistanceAntonio Pizzuti
Department of Experimental Medicine and Pathology, CSS Mendel Institute, University La Sapienza, 00100 Rome, Italy
J Clin Endocrinol Metab 87:4403-6. 2002..005), and serum triglycerides (P = 0.01). In conclusion, our data suggest that subjects carrying allele 3 of the resistin gene are characterized by relatively high insulin sensitivity...
- A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patientAntonio Pizzuti
Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Italy
Invest Ophthalmol Vis Sci 43:3609-12. 2002..To identify the gene disrupted by a de novo reciprocal balanced translocation t(6;8)(q26;q13) in a patient with Duane retraction syndrome (DURS). The break point in chromosome arm 8q is positioned within the DURS1 critical region...
- Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancerPardeep Kaurah
Hereditary Cancer Program, British Columbia Cancer Agency, Vancouver, British Columbia, Canada
JAMA 297:2360-72. 2007..Hereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and lobular breast cancer...
- Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned geneGiovanni Defazio
Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
Mov Disord 18:207-12. 2003..These findings suggest that primary familial adult-onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene...
- Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defectAnna Sarkozy
CSS Hospital, IRCCS, San Giovanni Rotondo, Italy
Am J Med Genet A 140:1970-2. 2006
- LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the diseaseMarineh Yagubyan
Division of Vascular Surgery, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
J Vasc Surg 39:897-900. 2004..He has multiple other peripheral aneurysms, thus far asymptomatic. His diagnosis of LEOPARD syndrome was confirmed on a genetic basis. Review of the literature reveals no previous reports of severe aneurysmal disease in these patients...