NovelCOL4A1mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection
| Autor: | Robert Smigiel, Hirofumi Kodera, Naomichi Matsumoto, Maria M. Sasiadek, Marek Sasiadek, Hirotomo Saitsu, Aleksandra Jakubiak, Magdalena Cabała |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Proband Embryology Microcephaly Pathology medicine.medical_specialty Parvovirus Congenital cytomegalovirus infection General Medicine Biology medicine.disease biology.organism_classification Rubella Toxoplasmosis 03 medical and health sciences Epilepsy 030104 developmental biology 0302 clinical medicine Schizencephaly Pediatrics Perinatology and Child Health medicine 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Birth Defects Research Part A: Clinical and Molecular Teratology. 106:304-307 |
| ISSN: | 1542-0752 |
| DOI: | 10.1002/bdra.23488 |
| Popis: | Background A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy. Methods TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an increased level of antibodies against parvovirus B19 was detected in the proband. Results Chromosomal analysis and array-CGH showed no aberration. Target capture sequencing for COL4A1 and COL4A2 revealed a de novo COL4A1 mutation (c.2123G>T [p.Gly708Val]). The mutation occurred at a highly conserved Gly residue in the Gly-X-Y repeat of the collagen triple helical domain, suggesting that these mutations may alter the collagen IV α1α1α2 heterotrimers. The mutation was predicted to be damaging. Conclusion We suggest that COL4A1 testing should be considered in patients with schizencephaly as well as with phenotype suggesting TORCH infection without any proven etiological factors. Birth Defects Research (Part A) 106:304–307, 2016. © 2016 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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