https://observatorio.fm.usp.br/handle/OPI/34486
Title: | Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing |
Authors: | HOMMA, Thais Kataoka; FREIRE, Bruna Lucheze; KAWAHIRA, Rachel Sayuri Honjo; DAUBER, Andrew; FUNARI, Mariana Ferreira de Assis; LERARIO, Antonio Marcondes; NISHI, Mirian Yumie; ALBUQUERQUE, Edoarda Vasco de; VASQUES, Gabriela de Andrade; COLLETT-SOLBERG, Paulo Ferrez; SUGAYAMA, Sofia Mizuho Miura; BERTOLA, Debora Romeo; KIM, Chong Ae; ARNHOLD, Ivo Jorge Prado; MALAQUIAS, Alexsandra Christianne; JORGE, Alexander Augusto de Lima |
Citation: | JOURNAL OF PEDIATRICS, v.215, p.192-198, 2019 |
Abstract: | Objective To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause. Study design For whole exome sequencing analysis, we selected 44 children born small for gestational age with persistent short stature, and additional features, such as dysmorphic face, major malformation, developmental delay, and/or intellectual disability. Seven patients had negative candidate gene testing based on clinical suspicion and 37 patients had syndromic conditions of unknown etiology. Results Of the 44 patients, 15 (34%) had pathogenic/likely pathogenic variants in genes already associated with growth disturbance: COL2A1 (n = 2), SRCAP (n = 2), AFF4, ACTG1, ANKRD11, BCL11B, BRCA1, CDKN1C, GINS1, INPP5K, KIF11, KMT2A, and POC1A (n = 1 each). Most of the genes found to be deleterious participate in fundamental cellular processes, such as cell replication and DNA repair. Conclusions The rarity and heterogeneity of syndromic short stature make the clinical diagnosis difficult. Whole exome sequencing allows the diagnosis of previously undiagnosed patients with syndromic short stature. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCM Artigos e Materiais de Revistas Científicas - FM/MPE Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - HC/ICr Artigos e Materiais de Revistas Científicas - LIM/03 Artigos e Materiais de Revistas Científicas - LIM/25 Artigos e Materiais de Revistas Científicas - LIM/36 Artigos e Materiais de Revistas Científicas - LIM/42 Artigos e Materiais de Revistas Científicas - ODS/03 |
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art_HOMMA_Genetic_Disorders_in_Prenatal_Onset_Syndromic_Short_Stature_2019.PDF Restricted Access | publishedVersion (English) | 898.79 kB | Adobe PDF | View/Open Request a copy |
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