Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
| Autor: | Shai E. Elizur, Noam Domniz, Yoram Cohen, Shay Ben-Shachar, Liat Ries Levavi, Hila Raanani, Michal Berkenstadt, Elon Pras, Yuval Yaron, Dana Brabbing Goldstein |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Multivariate analysis endocrine system diseases Obstetrics business.industry Ethnic group Heterozygote advantage Prenatal diagnosis Odds ratio FMR1 medicine Risk factor business Full mutation Genetics (clinical) |
| Zdroj: | Genetics in Medicine. 23:1023-1027 |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/s41436-020-01089-3 |
| Popis: | PURPOSE To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation. METHODS Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The heterozygote women and fetuses were analyzed for the number of CGG repeats and AGG interruptions. RESULTS Seven hundred sixty-six subjects were included. Parental ethnicity was fully concordant in 592 cases (Jewish, Ashkenazi, and non-Ashkenazi). Ashkenazi compared with non-Ashkenazi heterozygotes have a significantly higher mean number of CGG repeats (68 ± 8.7, 64 ± 6.4 respectively, P = 0.03) and a lower mean number of AGG interruptions (0.89 ± 0.83, 1.60 ± 1.18 respectively, p = 0.0001). Overall, 56/198 (28.2%) fetuses of Ashkenazi heterozygotes had an expansion to a full mutation compared with 6/98 among the non-Ashkenazi (6.1%) (p = 0.001). Multivariate analysis demonstrated that, in addition to CGG repeats and AGG interruptions (which contributed 68.3% of variance), ethnicity is an independent risk factor for a full mutation expansion (odds ratio [OR] = 2.04, p |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink