@article {10856, title = {When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report.}, journal = {J Adolesc Health}, volume = {64}, year = {2019}, month = {2019 Jan}, pages = {137-138}, abstract = {

Hereditary fructose intolerance is an autosomal recessive disorder of fructose metabolism caused by catalytic deficiency of aldolase B enzyme [1]. The disease is typically expressed when fructose- and sucrose-containing foods are first introduced in the diet; acute manifestations include nausea, vomiting, abdominal distress, and symptomatic hypoglycemia [1,2]. Chronic fructose ingestion eventually leads to poor feeding, growth retardation and gradual liver and/or renal failure [3,4]. Some patients may remain undiagnosed until adulthood because of a self-protective avoidance of sweet tasting food that prevents the development of acute toxicity from fructose containing food; however, these subjects may suffer intermittent symptoms throughout life, leading to potentially serious misdiagnosis [4]. We report the case of a patient with unrecognized hereditary fructose intolerance in which chronic gastrointestinal complaints, low body weight, and unexplained food avoidance were addressed as manifestations of an eating disorder during adolescence.

}, issn = {1879-1972}, doi = {10.1016/j.jadohealth.2018.07.014}, author = {Da Lozzo, Prisca and Magnolato, Andrea and Del Rizzo, Irene and Sirchia, Fabio and Bruno, Irene and Barbi, Egidio} } @article {10587, title = {Histoproteomic Characterization of Localized Cutaneous Amyloidosis in X-Linked Reticulate Pigmentary Disorder.}, journal = {Skin Pharmacol Physiol}, volume = {30}, year = {2017}, month = {2017}, pages = {90-93}, keywords = {Amyloidosis, Genetic Diseases, X-Linked, Humans, Pigmentation Disorders, Proteomics, Skin Diseases}, issn = {1660-5535}, doi = {10.1159/000464336}, author = {L{\textquoteright}Imperio, Vincenzo and Bruno, Irene and Rabach, Ingrid and Smith, Andrew and Chinello, Clizia and Stella, Martina and Magni, Fulvio and Pagni, Fabio} } @article {8500, title = {Macrocephaly and palmoplantar pitting.}, journal = {Arch Dis Child}, year = {2016}, month = {2016 Jun 28}, issn = {1468-2044}, doi = {10.1136/archdischild-2016-310771}, author = {Rabach, Ingrid and Salis, Simona and Bruno, Irene and Ventura, Alessandro} } @article {3621, title = {"Blaschkoid dyspigmentation" in a child: don{\textquoteright}t forget fibroblast chromosomal analysis.}, journal = {J Pediatr}, volume = {166}, year = {2015}, month = {2015 Feb}, pages = {490-90.e1}, keywords = {Abnormalities, Multiple, Child, Preschool, Chromosomes, DNA, Female, Fibroblasts, Humans, Phenotype, Pigmentation Disorders}, issn = {1097-6833}, doi = {10.1016/j.jpeds.2014.10.028}, author = {Gortani, Giulia and Faletra, Flavio and Bruno, Irene and Berti, Irene and Ventura, Alessandro} } @article {8024, title = {A brain and heart connection: X-linked periventricular heterotopia.}, journal = {J Pediatr}, volume = {166}, year = {2015}, month = {2015 Mar}, pages = {776}, keywords = {Adolescent, Brain, Diagnosis, Differential, DNA Mutational Analysis, Epilepsy, Female, Filamins, Humans, Magnetic Resonance Imaging, Mutation, Periventricular Nodular Heterotopia}, issn = {1097-6833}, doi = {10.1016/j.jpeds.2014.11.037}, author = {Naviglio, Samuele and Bruno, Irene and Zanus, Caterina and Faletra, Flavio and Ventura, Alessandro} } @article {7776, title = {Legius syndrome: case report and review of literature.}, journal = {Ital J Pediatr}, volume = {41}, year = {2015}, month = {2015}, pages = {8}, abstract = {

A 8-month-old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance, since few days after birth, of numerous caf{\'e}-au-lait spots (seven larger than 5 mm); no other sign evocative of NF 1 was found. Her family history was remarkable for the presence of multiple caf{\'e}-au-lait spots in the mother, the grandfather and two aunts. The family had been already examined for NF 1, but no sign evocative of the disease was found. We then suspected Legius syndrome, a dominant disease characterized by a mild neurofibromatosis 1 phenotype. The diagnosis was confirmed by the finding of a mutation in SPRED1 gene, a feedback regulator of RAS/MAPK signaling. Here, we discuss the differential diagnosis of caf{\`e}-au-lait spots and we briefly review the existing literature about Legius syndrome.

}, issn = {1824-7288}, doi = {10.1186/s13052-015-0115-9}, author = {Benelli, Elisa and Bruno, Irene and Belcaro, Chiara and Ventura, Alessandro and Berti, Irene} } @article {3478, title = {Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.}, journal = {Am J Med Genet A}, volume = {164A}, year = {2014}, month = {2014 Jan}, pages = {42-7}, abstract = {

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: α1, α2, and α3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis.

}, keywords = {Adolescent, Arthritis, Bone and Bones, Child, Child, Preschool, Collagen Diseases, Collagen Type IX, Connective Tissue Diseases, DNA Mutational Analysis, Facies, Female, Genes, Recessive, Hearing Loss, Hearing Loss, Sensorineural, Homozygote, Humans, Male, Mutation, Pedigree, Retinal Detachment}, issn = {1552-4833}, doi = {10.1002/ajmg.a.36165}, author = {Faletra, Flavio and d{\textquoteright}Adamo, Adamo P and Bruno, Irene and Athanasakis, Emmanouil and Biskup, Saskia and Esposito, Laura and Gasparini, Paolo} } @article {1956, title = {A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.}, journal = {Ophthalmic Genet}, volume = {34}, year = {2013}, month = {2013 Mar-Jun}, pages = {115-7}, abstract = {

Congenital cataract is a leading cause of visual impairment in children and brings approximately 10\% of childhood blindness worldwide. Molecular analysis revealed ~60 loci to be associated with several phenotypes of childhood cataracts. Until now, more than 30 loci and 18 genes on different chromosomes have been associated with autosomal dominant congenital cataract (ADCC). Here, we present a three-generation Italian family with a non syndromic ADCC. A linkage analysis carried out using HumanCytoSNP-12 DNA Analysis BeadChip led us to identify ten genomic regions virtually involved in the disease. All the genes located in these regions were scored for possible relationship with ADCC and, according to a strict clinical and genetic selection, 4 genes have been analyzed. A novel sequence variant was found in the CRYBB2 gene (p.Ser143Phe). This variant affects a conserved aminoacid in the third Greek key motif of the protein, cosegregates with the disease phenotype in all affected individuals and is not present both in the unaffected family members and 100 healthy control subjects. Finally, we identified the first CRYBB2 mutation in an Italian family causing a clinical picture of ADCC.

}, keywords = {Amino Acid Sequence, beta-Crystallin B Chain, Cataract, DNA Mutational Analysis, Female, Genes, Dominant, Genetic Linkage, Genotype, Humans, Italy, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype}, issn = {1744-5094}, doi = {10.3109/13816810.2012.707273}, author = {Faletra, Flavio and d{\textquoteright}Adamo, Adamo Pio and Pensiero, Stefano and Athanasakis, Emmanouil and Catalano, Dario and Bruno, Irene and Gasparini, Paolo} } @article {1966, title = {A red baby should not be taken too lightly.}, journal = {Acta Paediatr}, volume = {101}, year = {2012}, month = {2012 Dec}, pages = {e573-7}, abstract = {

AIM: To identify clinical and laboratory features that can drive the differential diagnosis of a primary immunodeficiency diseases in patients with ectodermal defects.

METHODS: Analysis of selected teaching cases.

RESULTS: We identified four exemplary cases that allowed to point out specific clues.

CONCLUSIONS: A careful evaluation of immune and ectodermal signs is the key to the diagnosis. Therefore, a multidisciplinary approach can lead to diagnosis and to an appropriate treatment in most of the cases.

}, keywords = {Child, Preschool, Dermatitis, Ectodermal Dysplasia, Female, Humans, Immunologic Deficiency Syndromes, Infant, Male, Netherton Syndrome, Severe Combined Immunodeficiency, Skin}, issn = {1651-2227}, doi = {10.1111/apa.12018}, author = {Faletra, Flavio and Bruno, Irene and Berti, Irene and Pastore, Serena and Pirrone, Angela and Tommasini, Alberto} } @article {1671, title = {A child with pain after mild trauma.}, journal = {J Pediatr}, volume = {157}, year = {2010}, month = {2010 Oct}, pages = {693}, keywords = {Antigens, CD, Antigens, CD31, Antigens, CD34, Antigens, Differentiation, Myelomonocytic, Biopsy, Child, Factor VIII, Fingers, Hand Injuries, Hemangioendothelioma, Humans, Immunohistochemistry, Injury Severity Score, Male, Osteolysis, Pain, Pain Measurement, S100 Proteins, Vascular Neoplasms}, issn = {1097-6833}, doi = {10.1016/j.jpeds.2010.04.028}, author = {Londero, Margherita and Pastore, Serena and Zanazzo, Giulio A and Bruno, Irene and Ventura, Alessandro} }