PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
| العنوان: | PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome |
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| المؤلفون: | Maria Orera, María Ángeles Mori, Elena Vallespín, Chad R. Haldeman-Englert, Alberto Fernández-Jaén, Xia Li, Alberto Plaja, Lani Devaney, María Palomares-Bralo, Alicia Delicado, Rubén Martín-Arenas, Salmo Raskin, Stephanie E. Vallee, Esther Corbacho-Fernández, Rocío Mena, Miguel Del Campo, Jay W. Ellison, Holly Dubbs, Jill A. Rosenfeld, Fernando Santos-Simarro, Sixto García-Miñaur, Sulagna C. Saitta, Lluís Armengol, M. Carmen Crespo, Carlos A. Venegas-Vega, Inmaculada Rueda-Arenas, Jair Tenorio, Victoria E. Fernandez-Montano, Fernando Fernández-Ramírez, Karen W. Gripp, Blanca Marín Fernández, María Luisa de Torres, Pablo Lapunzina, Gordon C. Gowans, Elizabeth Denenberg, Julián Nevado, M Carmen Sanchez-Hombre, Mary Beth Dinulos, Duban B Bénédicte |
| المصدر: | Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Male, Microcephaly, Candidate gene, Developmental Disabilities, MAP Kinase Kinase 2, MAP2K2, Biology, Bioinformatics, Article, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Megalencephaly, Child, Poly-ADP-Ribose Binding Proteins, Genetics (clinical), Macrocephaly, Infant, Syndrome, medicine.disease, Protein Inhibitors of Activated STAT, Hypotonia, DNA-Binding Proteins, Child, Preschool, Speech delay, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 19, Transcription Factors |
| الوصف: | Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'genotype first' approach using aCGH on 13 unrelated patients with 19p13.3 submicroscopic rearrangement (11 deletions and 2 duplications) and review cases in the literature and in public databases. Shared phenotypic features suggest that these patients represent an interstitial microdeletion/microduplication syndrome at 19p13.3. Common features consist of abnormal head circumference in most patients (macrocephaly with the deletions and microcephaly with the duplications), ID with developmental delay (DD), hypotonia, speech delay and common dysmorphic features. The phenotype is associated with at least a ~0.113 Mb critical region harboring three strong candidate genes probably associated with DD, ID, speech delay and other dysmorphic features: MAP2K2, ZBTB7A and PIAS4, an E3 ubiquitin ligase involved in the ubiquitin signaling pathways, which we hypothesize for the first time to be associated with head size in humans. |
| وصف الملف: | application/pdf |
| تدمد: | 1476-5438 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda0a94c6bcf36efa06bb9657b508d7Test https://pubmed.ncbi.nlm.nih.gov/25853300Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....acda0a94c6bcf36efa06bb9657b508d7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14765438 |
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