Editorial & Opinion
Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3.
| العنوان: | Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3. |
|---|---|
| المؤلفون: | Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.; Neurogenetics Unit, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, Brazil., Castro MAA; Neurogenetics Unit, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil., de Paiva ARB; Mendelics Genomic Analysis, São Paulo, Brazil.; Neurology Department, Hospital São Rafael-Rede D'Or São Luiz, Salvador, Brazil., Kok F; Neurogenetics Unit, Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3567-3568. Date of Electronic Publication: 2022 Sep 30. |
| نوع المنشور: | Letter |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Abnormalities, Multiple*/diagnosis , Abnormalities, Multiple*/genetics , Intellectual Disability*, Humans ; Muscle Hypotonia ; Seizures |
| References: | Kvarnung, M., Nilsson, D., Lindstrand, A., Korenke, G., Chiang, S., Blennow, E., Bergmann, M., Stödberg, T., Mäkitie, O., Anderlid, B.-M., Bryceson, Y. T., Nordenskjöld, M., & Nordgren, A. (2013). A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. Journal of Medical Genetics, 50(8), 521-528. https://doi.org/10.1136/jmedgenet-2013-101654. Maydan, G., Noyman, I., Har-Zahav, A., Neriah, Z., Pasmanik-Chor, M., Yeheskel, A., Albin-Kaplanski, A., Maya, I., Magal, N., Birk, E., Simon, A. J., Halevy, A., Rechavi, G., Shohat, M., Straussberg, R., & Basel-Vanagaite, L. (2011). Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. Journal of Medical Genetics, 48(6), 383-389. https://doi.org/10.1136/jmg.2010.087114. Rauch, A., Feindt, K., Leonard, C., Thompson, J., Hoffman, R., Creel, D., & Opitz, J. (1999). Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: The M syndrome. American Journal of Medical Genetics, 82(2), 194-198. https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<194::aid-ajmg18>3.0.co;2-7. Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H. L., & ACMG Laboratory Quality Assurance Committee. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405-424. https://doi.org/10.1038/gim.2015.30. |
| SCR Disease Name: | Light Fixation Seizure Syndrome |
| تواريخ الأحداث: | Date Created: 20220930 Date Completed: 20221114 Latest Revision: 20230130 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1002/ajmg.a.62977 |
| PMID: | 36177944 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
|---|---|
| DOI: | 10.1002/ajmg.a.62977 |