0000000000108439

AUTHOR

P Sammarco

showing 16 related works from this author

A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations

2015

The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG-non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of t…

ProbandMalemedicine.medical_specialtyGenotypeHearing lossHearing Loss SensorineuralGJB2 mutations Sensorineural hearing loss Genetic hearing loss · Cx26BiologyDeafnessCompound heterozygositymedicine.disease_causeGastroenterologySeverity of Illness IndexConnexinsCorrelationYoung AdultAudiometryInternal medicineGenotypemedicineHumansChildHearing LossSicilyGenetic Association StudiesGeneticsMutationGeneral Medicinemedicine.diseaseSettore MED/32 - AudiologiaConnexin 26Settore MED/31 - OtorinolaringoiatriaOtorhinolaryngologyChild PreschoolCohortMutationSensorineural hearing lossFemalemedicine.symptom
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Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia

2010

chemistry.chemical_classificationHemolytic anemiahaemolytic anaemianew DNA mutationEnzyme defectHematologyhereditary genetic defectBiologymedicine.diseaseMicrobiologychemistry.chemical_compoundSettore MED/38 - Pediatria Generale E SpecialisticaEnzymeBiochemistrychemistryenzyme defectmedicineChronic non-spherocytic haemolytic anaemiaGlucose-6-phosphate dehydrogenaseSpherocytic anemiaG6PDBritish Journal of Haematology
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Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family

2013

The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…

AdultProbandNovel mutationGenotypeHearing Loss SensorineuralDNA Mutational AnalysisNonsense mutationMutation MissenseGenes RecessiveCongenital hearing lossConnexin mutationSeverity of Illness IndexConnexinsmedicineHumansMissense mutationFamilySicilyGeneticsbiologyTransition (genetics)InfantGeneral Medicinemedicine.diseaseGJB2Settore MED/32 - AudiologiaPedigreeNovel mutation Connexin mutation GJB2Sensorineural hearing loss Congenital hearing lossConnexin 26Settore MED/31 - OtorinolaringoiatriaNovel mutation; Connexin mutation; GJB2OtorhinolaryngologyMutation (genetic algorithm)biology.proteinSettore MED/26 - NeurologiaSensorineural hearing lossGJB6European Archives of Oto-Rhino-Laryngology
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Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

2014

Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz of 88.82 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c…

AdultProbandLinguistics and Languagemedicine.medical_specialtyAdolescentGenotypeHearing Loss SensorineuralAudiologyConnexinsLanguage and LinguisticsYoung AdultSpeech and HearingExonBasal (phylogenetics)Genotypeotorhinolaryngologic diseasesHumansMedicineAlleleChildSicilyAgedRetrospective Studiesbiologybusiness.industrySensorineural hearing loss; GJB2; Genotype-Phenotype; SicilyMiddle Agedmedicine.diseaseGJB2Settore MED/32 - AudiologiaConnexin 26Settore MED/31 - OtorinolaringoiatriaPhenotypeSettore MED/03 - Genetica MedicaSensorineural hearing loGenotype-PhenotypeMutationCohortbiology.proteinSensorineural hearing lossbusinessGJB6International Journal of Audiology
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Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

2007

Deafness is caused by a variety of facts, genetic and environmental. Regarding the acquired causes, deafness can be the consequence of prenatal infections, acoustic or cerebral trauma, and the use of ototoxic drugs. Deafness can be the only manifestation (nonsyndromic forms) or it may occur together with other phenotypic findings (syndromic forms). The majority of nonsyndromicdeafness has a genetic basis [Van Camp et al., 1997]. In recent years, deafness and hearing loss have assumed a clinical importance in the study of congenital disorders [Morton et al., 1991]. The clinical interest for hearing loss is supported by the social impact that this disorder has; if not treated, delays in the d…

GenotypeHearing lossHearing Loss SensorineuralDNA Mutational AnalysisNonsense mutationBiologyGene mutationConnexinsneonate deafness geneticExonNeonatal ScreeningGene Frequencyotorhinolaryngologic diseasesGeneticsmedicineHumansGenetic TestingSicilyGeneGenetics (clinical)Chromosome 13GeneticsSplice site mutationInfant NewbornGenetic VariationStop codonConnexin 26PhenotypeMutationmedicine.symptomAmerican Journal of Medical Genetics Part A
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A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B

2006

GeneticsCalciphylaxismedicine.diagnostic_testbusiness.industrymedia_common.quotation_subjectNonsense mutationNonsensemedicine.diseaseExonEmergency MedicineInternal MedicineMedicineHaemophilia BbusinessGeneGenetic testingFactor IXmedicine.drugmedia_commonInternal and Emergency Medicine
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Valutazione dei genotipi G6PD nella popolazione Siciliana e identificazione di una nuova variante: “G6PD*Palermo R257M”.

2008

La deficienza enzimatica di G6PDH è uno dei più comuni disordini nella popolazione siciliana in quanto più di 400 milioni di persone ne sono affette. Al fine di valutare la reale prevalenza dei casi nel nostro territorio presentiamo i dati di uno studio di genotipizzazione del locus G6PD (Xq28). 349 soggetti Siciliani di sesso maschile affetti da deficienza di G6PDH sono stati tipizzati secondo varie metodiche. Gli approcci di laboratorio sono: RFLPs (NlaIII, BclI, PstI e BspHI), PCR-Reverse Dot Blot (RDB) ed il sequenziamento diretto del gene. Le prime metodiche sono utili per definire le mutazioni già descritte e comunque le più comuni; il sequenziamento diretto è determinante per la valu…

Settore MED/38 - Pediatria Generale E Specialisticagenotipi G6PD mutazioni più frequentinuova variante.
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Espressività clinica in soggetti con mutazioni della marenostrina "asintomatiche": descrizione di una casistica.

2012

Settore MED/38 - Pediatria Generale E Specialisticafebbre mediterranea familiare età evolutiva
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Gene symbol: f9.

2007

Factor IXSettore MED/38 - Pediatria Generale E SpecialisticaCodon NonsenseMutationCodon TerminatorHumansHemophilia B/genetics.CodonHemophilia BSicilyProtein Structure TertiaryHuman genetics
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Indagini genetiche e trattamenti prenatali in utero della Sindrome Adreno Genitale (SAG) in una Coorte Siciliana.

2008

La deficienza dell'enzima 21 idrossilasi (21OHD) è la causa più comune di sindrome adrenogenitale (SAG). Il gene implicato è il CYP21 (6p21.3). La SAG è un problema clinico-sociale in quanto nel 95% dei casi genera l'iperandrogenismo dei neonati di sesso femminile. Il trattamento più effettuato in corso di virilizzazzione dei genitali femminili esterni è di tipo chirurgico (genitoplastica). Il trattamento prenatale in utero è una alternativa medica con il fine di compensare il difetto enzimatico e prevenire l'eccesso di androgeni in corso di morfogenesi fetale. Un nuovo protocollo diagnostico-terapeutico prenatale è stato sviluppato sulla base di una terapia precoce (alla 5° WG) con Desamet…

sindrome adrenogenitale Il gene CYP21 trattamento prenatale in utero.Settore MED/38 - Pediatria Generale E Specialistica
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Epidemiologia Della Sordità Geneticamente Trasmessa Nella Popolazione Siciliana

2005

Settore MED/38 - Pediatria Generale E SpecialisticaSORDITA' GENETICAMENTE TRASMESSA GJB2 GENE SEQUENZIAMENTO.
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ANGIOEDEMA EREDITARIO DA DEFICIT DI C1-INIBITORE: IDENTIFICAZIONE GENETICA PRECOCE IN UN NUCLEO FAMILIARE

2010

Settore MED/38 - Pediatria Generale E SpecialisticaANGIOEDEMA EREDITARIO C1-INIBITORE IDENTIFICAZIONE GENETICA
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Esordio precoce di febbre mediterranea familiare in paziente con triplice mutazione

2012

Settore MED/38 - Pediatria Generale E SpecialisticaFebbre mediterranea familiare esordio precoce
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MALATTIA DI KAWASAKI ED INFEZIONE DA EBV IN PAZIENTE CON TRIPLICE MUTAZIONE DEL GENE DELLA FEBBRE MEDITERRANEA FAMILIARE

2012

MALATTIA DI KAWASAKI INFEZIONE DA EBV FEBBRE MEDITERRANEA FAMILIARESettore MED/38 - Pediatria Generale E Specialistica
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Trombofilia ereditaria e complicanze gravidiche nella popolazione siciliana

2009

Trombofilia ereditaria e complicanze gravidiche nella popolazione siciliana. È ormai noto che la trombofilia congenita rappresen- ti un fattore di rischio per la gravidanza. Può infatti es- sere causa di abortività ricorrente, perdita fetale (MEF), ritardo di crescita fetale (IUGR) e altri problemi nel mantenimento della gravidanza (preeclampsia e di- stacco di placenta). Nel presente studio è stata indaga- ta la prevalenza dei fattori trombofilici nella popolazio- ne siciliana e la possibile relazione fra essi ed un even- to trombotico uteroplacentare in gravidanza. Sono sta- ti comparati due gruppi di gestanti con anamnesi posi- tiva per presenza di almeno un fattore trombofilico e storia…

Settore MED/38 - Pediatria Generale E SpecialisticaTrombofilia mutazioni genetiche complicanze gravidiche.
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A large view of CYP21 locus among Sicilians and other Populations: identification of a novel CYP21A2 variant in Sicily.

2011

Background. Several mutations in CYP21 locus cause 21-Hydroxylase Deficiency (21-OHD). The most common mutations are widespread among the different geographic areas and their frequencies have been also reported to differ among certain populations. Aim. To obtain a large view on the frequencies of the most common mutations in the CYP21 locus, in Sicily, in Mediterranean and in other major geographic areas in the worldwide. Subjects and Methods. 308 unrelated CYP21A2 alleles leading 21-OHD in Sicily were genetically typed and compared with other series previously reported in Sicily and in surrounding regions. An analysis of the frequencies of the different geographic areas was also carried ou…

Settore MED/38 - Pediatria Generale E Specialistica21-Hydroxylase Deficiency frequencies of the most common mutations CYP21A2 novel mutation.
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