Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome
| Autor: | Alexandra MacDonald, Amparo López-Lafuente, María Solo de Zaldívar Tristancho, José Luis Gómez-Skarmeta, Eva Bermejo-Sánchez, Ángel Zúñiga, María Luisa Martínez-Frías, María Luisa Martínez-Fernández, Ignacio Arroyo-Carrera |
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| Přispěvatelé: | Fundación 1000 sobre defectos congénitos |
| Rok vydání: | 2015 |
| Předmět: |
Male
Del 1q43-q44 Microcephaly Adolescent DNA Mutational Analysis Formins Haploinsufficiency Biology Bioinformatics Microphthalmia Cataract Cornea Exon Atrophy Intellectual Disability Genetics medicine Humans Abnormalities Multiple Warburg–Micro syndrome Gene Genetics (clinical) Genetic Association Studies Adaptor Proteins Signal Transducing Receptor Muscarinic M3 Comparative Genomic Hybridization Hypogonadism Microfilament Proteins Rod Opsins Nuclear Proteins Exons medicine.disease Receptors Muscarinic Microcornea Optic Atrophy Chromosomes Human Pair 1 Congenital cataracts Cytokines Intercellular Signaling Peptides and Proteins Genes related with vesicular transport Chromosome Deletion WARBM RGS Proteins |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This syndrome is caused by mutations in the RAB3GAP1/2 and RAB18 genes, part of the Rab family, and in the TBC1D20 gene, which contributes to lipid droplet formation/metabolism. Here we present a patient with clinical diagnosis of WARBM syndrome, who did not have mutations in either the RAB3GAP1/2 genes, in the main exons of RAB18, nor in the TBC1D20 gene. However, the analysis with CGH-array detected a 9.6 Mb deletion at 1q43-qter. We performed a genotype-phenotype correlation using 20 previously published patients in whom the coordinates of the deleted regions were defined. The comparative analysis revealed that the current patient and three of the other 20 patients share the loss of six genes, four of which are related with the family of G proteins, and are strongly expressed in the brain, retina, heart and kidney. Consequently, their haploinsufficiency may result in different combinations of clinical alterations, including some of those of WARBM syndrome. In addition, the haploinsufficiency of other genes may contribute to other defects and clinical variability. Additionally, for the genotype-phenotype correlation, one must also consider molecular pathways that can result in the observed alterations. To early confirm a genetic diagnosis is essential for the patient and family. The current patient was considered as having a recessive syndrome, but since he had a >de novo> deletion, there was not an increased recurrence risk. Fundación 1.000 sobre Defectos Congénitos, Spain. |
| Databáze: | OpenAIRE |
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