Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome
| العنوان: | Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome |
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| المؤلفون: | Kumiko Yanagi, Yoshiteru Azuma, Atsushi Fujita, Yutaka Harita, Ai Motomura, Tadashi Kaname, Takeshi Mizuguchi, Yoichiro Oda, Naomichi Matsumoto, Keiko Wakui, Yoichi Matsubara, Kenichiro Hata, Hiroko Ogata, Yuri Uchiyama |
| المصدر: | Journal of Human Genetics. 64:1005-1014 |
| بيانات النشر: | Springer Science and Business Media LLC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | 0301 basic medicine, Adolescent, DNA Copy Number Variations, Chromosome Disorders, Chromosomal translocation, 030105 genetics & heredity, Biology, Translocation, Genetic, 03 medical and health sciences, Epilepsy, Gene Duplication, Chromosome Duplication, Exome Sequencing, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, Infant, West Syndrome, medicine.disease, Phenotype, Pedigree, Fibroblast Growth Factors, 030104 developmental biology, Neurodevelopmental Disorders, dup, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Chromosomes, Human, Pair 9, Spasms, Infantile, 3q29 microduplication |
| الوصف: | Complex rearrangements of chromosomes 3 and 9 were found in a patient presenting with severe epilepsy, developmental delay, dysmorphic facial features, and skeletal abnormalities. Molecular cytogenetic analysis revealed 46,XX.ish der(9)(3qter→3q28::9p21.1→9p22.3::9p22.3→9qter)(RP11-368G14+,RP11-299O8-,RP11-905L2++,RP11-775E6++). Her dysmorphic features are consistent with 3q29 microduplication syndrome and inv dup del(9p). Trio-based WES of the patient revealed no pathogenic single nucleotide variants causing epilepsy, but confirmed a 3q28q29 duplication involving FGF12, which encodes fibroblast growth factor 12. FGF12 positively regulates the activity of voltage-gated sodium channels. Recently, only one recurrent gain-of-function variant [NM_021032.4:c.341G>A:p.(Arg114His)] in FGF12 was found in a total of 10 patients with severe early-onset epilepsy. We propose that the patient's entire FGF12 duplication may be analogous to the gain-of-function variant in FGF12 in the epileptic phenotype of this patient. |
| تدمد: | 1435-232X 1434-5161 |
| DOI: | 10.1038/s10038-019-0641-1 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82255fe7684378b16d49ee12dd63a195 https://doi.org/10.1038/s10038-019-0641-1 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....82255fe7684378b16d49ee12dd63a195 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1435232X 14345161 |
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| DOI: | 10.1038/s10038-019-0641-1 |