دورية أكاديمية
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases
| العنوان: | Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases |
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| المؤلفون: | 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 |
| المساهمون: | 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 |
| سنة النشر: | 2021 |
| المجموعة: | Università degli Studi di Genova: CINECA IRIS |
| مصطلحات موضوعية: | GNAS DMR, Mulchandani–Bhoj–Conlin syndrome, Silver Russell, UPD(20)mat, diagnostic flowchart, epigenetic deregulation, growth disorder, rare mechanism, Adult, Child, Chromogranin, Chromosomes, Human, Pair 20, Diagnosis, Differential, Female, GTP-Binding Protein alpha Subunits, Genomic Imprinting, Infant, Male, Maternal Age, Maternal Inheritance, Pathology, Molecular, Pedigree, Phenotype, Silver-Russell Syndrome, Uniparental Disomy |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/33920573; info:eu-repo/semantics/altIdentifier/wos/WOS:000643046000001; volume:12; firstpage:1; lastpage:12; numberofpages:12; journal:GENES; https://hdl.handle.net/11567/1057645Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105121709 |
| DOI: | 10.3390/genes12040588 |
| الإتاحة: | https://doi.org/10.3390/genes12040588Test https://hdl.handle.net/11567/1057645Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.B1D48271 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/genes12040588 |
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