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Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
Tannorella, Pierpaola; Minervino, Daniele; Guzzetti, Sara; Vimercati, Alessandro; Calzari, Luciano; Patti, Giuseppa; Maghnie, Mohamad; Allegri, Anna Elsa Maria; Milani, Donatella; Scuvera, Giulietta; Mariani, Milena; Modena, Piergiorgio; Selicorni, Angelo; Larizza, Lidia; Russo, Silvia.
Afiliación
  • Tannorella P; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20095 Milan, Italy.
  • Minervino D; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20095 Milan, Italy.
  • Guzzetti S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20095 Milan, Italy.
  • Vimercati A; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20095 Milan, Italy.
  • Calzari L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20095 Milan, Italy.
  • Patti G; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Maghnie M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, 16132 Genova, Italy.
  • Allegri AEM; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Milani D; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, 16132 Genova, Italy.
  • Scuvera G; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Mariani M; Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Modena P; Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Selicorni A; Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, via Francesco Sforza 28, 20122 Milan, Italy.
  • Larizza L; UOC Pediatria, ASST Lariana, 22100 Como, Italy.
  • Russo S; SOS-ID Laboratorio di Genetica, ASST Lariana, 22100 Como, Italy.
Genes (Basel) ; 12(4)2021 04 17.
Article en En | MEDLINE | ID: mdl-33920573
Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine-Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in (epi)genetic deregulations at multiple loci: the loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5) (50%) and the maternal uniparental disomy of chromosome 7 (UPD(7)mat) (10%) are the most frequent causes. Thus far, about 40% of SRS remains undiagnosed, pointing to the need to define the rare mechanisms in such a consistent fraction of unsolved patients. Within a cohort of 176 SRS with an NH-CSS ≥ 3, a molecular diagnosis was disclosed in about 45%. Among the remaining patients, we identified in 3 probands (1.7%) with UPD(20)mat (Mulchandani-Bhoj-Conlin syndrome, OMIM #617352), a molecular mechanism deregulating the GNAS locus and described in 21 cases, characterized by severe feeding difficulties associated with failure to thrive, preterm birth, and intrauterine/postnatal growth retardation. Our patients share prominent forehead, feeding difficulties, postnatal growth delay, and advanced maternal age. Their clinical assessment and molecular diagnostic flowchart contribute to better define the characteristics of this rare imprinting disorder and to rank UPD(20)mat as the fourth most common pathogenic molecular defect causative of SRS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 20 / Cromograninas / Subunidades alfa de la Proteína de Unión al GTP Gs / Disomía Uniparental / Síndrome de Silver-Russell Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 20 / Cromograninas / Subunidades alfa de la Proteína de Unión al GTP Gs / Disomía Uniparental / Síndrome de Silver-Russell Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza