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Dive into the research topics where Filomena Tiziana Papa is active.

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Featured researches published by Filomena Tiziana Papa.


American Journal of Medical Genetics Part A | 2008

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

Filomena Tiziana Papa; Maria Antonietta Mencarelli; Rossella Caselli; Eleni Katzaki; Katia Sampieri; Ilaria Meloni; Francesca Ariani; Ilaria Longo; Angela Maggio; Paolo Balestri; Salvatore Grosso; Maria Angela Farnetani; Rosario Berardi; Francesca Mari; Alessandra Renieri

The present report describes a 7‐year‐old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array‐CGH. The region is gene poor and contains only five genes two of them, FOXG1B and PRKD1 being deleted also in a previously reported case with a very similar phenotype. Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation. FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation.


European Journal of Medical Genetics | 2009

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

Maria Antonietta Mencarelli; Tjitske Kleefstra; Eleni Katzaki; Filomena Tiziana Papa; Monika Cohen; Rolph Pfundt; Francesca Ariani; Ilaria Meloni; Francesca Mari; Alessandra Renieri

Only two patients with 14q12 deletion have been reported to date. Here, we describe an additional patient with a similar deletion in order to improve the clinical delineation of this new microdeletion syndrome. The emerging phenotype is characterized by a Rett-like clinical course with an almost normal development during the first months of life followed by a period of regression. A peculiar facial phenotype is also present and it is characterized by mild dysmorphisms such as downslanting palpebral fissures, bilateral epicanthic folds, depressed nasal bridge, bulbous nasal tip, tented upper lip, everted lower lip and large ears. The relationship between this microdeletion syndrome and the congenital variant of Rett syndrome due to point mutations in one of the genes included in the deleted region, FOXG1, is discussed.


American Journal of Medical Genetics Part A | 2010

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

Eleni Katzaki; Gilles Morin; Marzia Pollazzon; Filomena Tiziana Papa; Sabrina Buoni; Joussef Hayek; Joris Andrieux; Laure Lecerf; Cornel Popovici; Aline Receveur; Michèle Mathieu-Dramard; Alessandra Renieri; Francesca Mari; N. Philip

During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as a routine diagnostic tool. Microdeletions of the 21q22.11q22.12 region encompassing the RUNX1 gene have been reported in nine patients presenting with syndromic thrombocytopenia and mental retardation. RUNX1 gene is responsible for an autosomal dominant platelet disorder with predisposition to acute myelogenous leukemia. We report on three novel patients with an overlapping “de novo” interstitial deletion involving the band 21q22 characterized by array‐CGH. All our patients presented with severe developmental delay, dysmorphic features, behavioral problems, and thrombocytopenia. Comparing the clinical features of our patients with the overlapping ones already reported two potential phenotypes related to 21q22 microdeletion including RUNX1 were highlighted: thrombocytopenia with ± mild dysmorphic features and syndromic thrombocytopenia with growth and developmental delay.


European Journal of Medical Genetics | 2012

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Emilia K. Bijlsma; Amanda L. Collins; Filomena Tiziana Papa; María-Isabel Tejada; Patricia G. Wheeler; E. A. Peeters; Antoinet C.J. Gijsbers; J. M. van de Kamp; Marjolein Kriek; Monique Losekoot; A. J. Broekma; John A. Crolla; Marzia Pollazzon; Mafalda Mucciolo; Eleni Katzaki; Vittoria Disciglio; M. I. Ferreri; Annabella Marozza; Ma Mencarelli; Cinzia Castagnini; Laura Dosa; Francesca Ariani; Francesca Mari; Roberto Canitano; Giuseppe Hayek; M. P. Botella; B. Gener; M. Mínguez; Alessandra Renieri; Claudia Ruivenkamp

Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech. Female patients with Xq duplications including MECP2 are rare. Only recently submicroscopic duplications of this region on Xq28 have been recognized in four females, and a triplication in a fifth, all in combination with random X-chromosome inactivation (XCI). Based on this small series, it was concluded that in females with MECP2 duplication and random XCI, the typical symptoms of affected boys are not present. We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females. The collected data indicate that the associated phenotype in females is distinct from males with similar duplications, but the clinical effects may be as severe as seen in males.


Cancer Science | 2009

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

Katia Sampieri; Mariangela Amenduni; Filomena Tiziana Papa; Eleni Katzaki; Maria Antonietta Mencarelli; Annabella Marozza; Maria Carmela Epistolato; Paolo Toti; Stefano Lazzi; Mirella Bruttini; Roberta De Filippis; Sonia De Francesco; Ilaria Longo; Ilaria Meloni; Francesca Mari; Antonio Acquaviva; Theodora Hadjistilianou; Alessandra Renieri; Francesca Ariani

In retinoblastoma, two RB1 mutations are necessary for tumor development. Recurrent genomic rearrangements may represent subsequent events required for retinoblastoma progression. Array‐comparative genomic hybridization was carried out in 18 eye samples, 10 from bilateral and eight from unilateral retinoblastoma patients. Two unilateral cases also showed areas of retinoma. The most frequent imbalance in retinoblastomas was 6p gain (40%), followed by gains at 1q12‐q25.3, 2p24.3‐p24.2, 9q22.2, and 9q33.1 and losses at 11q24.3, 13q13.2‐q22.3, and 16q12.1‐q21. Bilateral cases showed a lower number of imbalances than unilateral cases (P = 0.002). Unilateral cases were divided into low‐level (≤4) and high‐level (÷7) chromosomal instability groups. The first group presented with younger age at diagnosis (mean 511 days) compared with the second group (mean 1606 days). In one retinoma case ophthalmoscopically diagnosed as a benign lesion no rearrangements were detected, whereas the adjacent retinoblastoma displayed seven aberrations. The other retinoma case identified by retrospective histopathological examination shared three rearrangements with the adjacent retinoblastoma. Two other gene‐free rearrangements were retinoma specific. One rearrangement, dup5p, was retinoblastoma specific and included the SKP2 gene. Genomic profiling indicated that the first retinoma was a pretumoral lesion, whereas the other represents a subclone of cells bearing ‘benign’ rearrangements overwhelmed by another subclone presenting aberrations with higher ‘oncogenic’ potential. In summary, the present study shows that bilateral and unilateral retinoblastoma have different chromosomal instability that correlates with the age of tumor onset in unilateral cases. This is the first report of genomic profiling in retinoma tissue, shedding light on the different nature of lesions named ‘retinoma’. (Cancer Sci 2009; 100: 465–471)


European Journal of Medical Genetics | 2009

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb

Marzia Pollazzon; Salvatore Grosso; Filomena Tiziana Papa; Eleni Katzaki; Annabella Marozza; Ma Mencarelli; Vera Uliana; Paolo Balestri; Francesca Mari; Alessandra Renieri

We describe a de novo 3q27.3q29 deletion in a 2.5-year-old female patient with developmental and growth delay, dysmorphic facial features, mild tricuspid valve dysplasia, bifid thumb, clinodactyly of the 2nd toe bilaterally and scoliosis. The deletion overlaps for about 1Mb with the 1.6Mb region commonly deleted in patients with 3q29 microdeletion syndrome. The phenotype of the two syndromes is not completely overlapping, though the most important clinical features, such as mental retardation and microcephaly, occur in both. This suggests that the deletion in our patient causes a distinct clinical phenotype, not described previously. In the deleted region there are 47 annotated genes. Among them, seven are of particular interest for correlation with clinical features of the patient. Two genes, OPA1 and CCDC50, responsible for autosomal dominant optic atrophy and deafness, respectively, may be important for the correct follow-up of the patient.


Clinical Dysmorphology | 2008

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.

Vera Uliana; Nicola Giordano; Rossella Caselli; Filomena Tiziana Papa; Francesca Ariani; Claudio Marcocci; Elena Gianetti; Giuseppe Martini; Panagiotis Papakostas; Fabio Rollo; Ilaria Meloni; Francesca Mari; Manuela Priolo; Alessandra Renieri; Ranuccio Nuti

The MURCS association [Müllerian Duct aplasia or hypoplasia (M), unilateral renal agenesis (UR) and cervicothoracic somite dysplasia (CS)] manifests itself as Müllerian Duct aplasia or hypoplasia, unilateral renal agenesis and cervicothoracic somite dysplasia. We report on a 22-year-old woman with bicornuate uterus, right renal agenesis, C2–C3 vertebral fusion (MURCS association) and 22q11.2 deletion. Angio-MRI revealed the aberrant origin of arch arteries. Hashimoto thyroiditis, micropolycystic ovaries with a dermoid cyst in the right ovary and mild osteoporosis were also diagnosed. Accurate revision of radiographs enabled us also to identify thoracolumbar and lumbosacral vertebral-differentiation defects. Audiometry and echocardiogram were normal. Bone densitometry showed osteoporosis. As per our evaluation, the patient had short stature, obesity (BMI 30.7) and facial features suggestive of the 22q11 deletion syndrome. Multiplex ligation-dependent probe amplification analysis showed a de-novo 22q11.2 deletion confirmed by array-comparative genomic hybridization analysis. We discuss whether this is a casual association or whether it is an additional syndrome owing to the well known phenotype extensive variability of the 22q11 deletion syndrome.


Journal of Human Genetics | 2011

Investigation of modifier genes within copy number variations in Rett syndrome

Rosangela Artuso; Filomena Tiziana Papa; Elisa Grillo; Mafalda Mucciolo; Dag H. Yasui; Keith W. Dunaway; Vittoria Disciglio; Maria Antonietta Mencarelli; Marzia Pollazzon; Michele Zappella; Giuseppe Hayek; Francesca Mari; Alessandra Renieri; Janine M. LaSalle; Francesca Ariani

MECP2 mutations are responsible for two different phenotypes in females, classical Rett syndrome and the milder Zappella variant (Z-RTT). We investigated whether copy number variants (CNVs) may modulate the phenotype by comparison of array-CGH data from two discordant pairs of sisters and four additional discordant pairs of unrelated girls matched by mutation type. We also searched for potential MeCP2 targets within CNVs by chromatin immunopreceipitation microarray (ChIP–chip) analysis. We did not identify one major common gene/region, suggesting that modifiers may be complex and variable between cases. However, we detected CNVs correlating with disease severity that contain candidate modifiers. CROCC (1p36.13) is a potential MeCP2 target, in which a duplication in a Z-RTT and a deletion in a classic patient were observed. CROCC encodes a structural component of ciliary motility that is required for correct brain development. CFHR1 and CFHR3, on 1q31.3, may be involved in the regulation of complement during synapse elimination, and were found to be deleted in a Z-RTT but duplicated in two classic patients. The duplication of 10q11.22, present in two Z-RTT patients, includes GPRIN2, a regulator of neurite outgrowth and PPYR1, involved in energy homeostasis. Functional analyses are necessary to confirm candidates and to define targets for future therapies.


Journal of Human Genetics | 2007

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Eleni Katzaki; Chiara Pescucci; Vera Uliana; Filomena Tiziana Papa; Francesca Ariani; Ilaria Meloni; Manuela Priolo; Angelo Selicorni; Donatella Milani; Rita Fischetto; Maria Elena Celle; Rita Grasso; Bruno Dallapiccola; Francesco Brancati; Marta Bordignon; Romano Tenconi; Antonio Federico; Francesca Mari; Alessandra Renieri; Ilaria Longo

AbstractCohen syndrome is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual disability, facial dysmorphisms and intermittent neutropenia. We described a cohort of 10 patients affected by Cohen syndrome from nine Italian families ranging from 5 to 52 years at assessment. Characteristic age related facial changes were well documented. Visual anomalies, namely retinopathy and myopia, were present in 9/10 patients (retinopathy in 9/10 and myopia in 8/10). Truncal obesity has been described in all patients older than 6 years (8/8). DNA samples from all patients were analyzed for mutations in COH1 by DHPLC. We detected 15 COH1 alterations most of them were truncating mutations, only one being a missense change. Partial gene deletions have been found in two families. Most mutations were private. Two were already reported in the literature just once. A single base deletion leading to p.T3708fs3769, never reported before, was found in three apparently unrelated families deriving from a restricted area of the Venetos lowland, between Padova town and Tagliamento river, in heterozygous state. Given the geographical conformation of this region, which is neither geographically or culturally isolated, a recent origin of the mutation could be hypothesized.


British Journal of Ophthalmology | 2011

Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG

Paolo Frezzotti; Chiara Pescucci; Filomena Tiziana Papa; Michele Iester; V. Mittica; Ilaria Motolese; Sabrina Peruzzi; Rosangela Artuso; Ilaria Longo; Maria Antonietta Mencarelli; Pietro Mittica; Eduardo Motolese; Alessandra Renieri

Background/aims To assess the involvement of WDR36 sequence variance in primary open-angle glaucoma (POAG) in Italian patients. Methods A cohort of 34 Italian families affected by POAG was analysed by denaturing high-performance liquid chromatography for mutation in the WDR36 gene. Among the 34 families enrolled, 25 were affected by high-tension glaucoma (HTG), four by juvenile open-angle glaucoma and one by normal tension glaucoma. In addition, four families presented both juvenile open-angle glaucoma and HTG-POAG patients within the same pedigree. Results Four previously identified intronic polymorphisms (IVS5+30C→T; IVS12+90 G→T; IVS13+89G→A; IVS16-30A→G) and a novel one (IVS21-75G→A) have been identified. In addition, one proband was found to carry the p.D658G mutation reported as the more recurrent disease-causing allele. Conclusions The findings suggest that WDR36 sequence variance is only a rare cause of glaucoma in Italian families. Clearly, investigation of additional families with extensive studies is needed to clarify the role of WDR36 in the pathophysiology of glaucoma.

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