Paternal transmission of a FMR1 full mutation allele

2017 ◽  
Vol 173 (10) ◽  
pp. 2795-2797 ◽  
Author(s):  
Maria Isabel Alvarez-Mora ◽  
Miriam Guitart ◽  
Laia Rodriguez-Revenga ◽  
Irene Madrigal ◽  
Elisabeth Gabau ◽  
...  
Keyword(s):  
Full Mutation ◽  
Paternal Transmission ◽  
Full Mutation Allele ◽  
Mutation Allele

scholarly journals Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

2017 ◽  
Vol 8 ◽  
Author(s):  
Esther Manor ◽  
Azhar Jabareen ◽  
Nurit Magal ◽  
Arei Kofman ◽  
Randi J. Hagerman ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Full Mutation ◽  
Full Mutation Allele ◽  
Mutation Allele

scholarly journals Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
María-Isabel Tejada ◽  
Guillermo Glover ◽  
Francisco Martínez ◽  
Miriam Guitart ◽  
Yolanda de Diego-Otero ◽  
...  
Keyword(s):  
Klinefelter Syndrome ◽  
Fragile X ◽  
Female Offspring ◽  
Molecular Diagnostic ◽  
Molecular Testing ◽  
Full Mutation ◽  
Premutation Allele ◽  
Full Mutation Allele ◽  
Intermediate Alleles ◽  
Mutation Allele

Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%;P<0.001). Furthermore, in mothers with intermediate alleles (45–54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55–59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of<59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling.

scholarly journals Study of telomere length in men who carry a fragile X premutation or full mutation allele

2020 ◽  
Vol 139 (12) ◽  
pp. 1531-1539
Author(s):  
Igor Albizua ◽  
Pankaj Chopra ◽  
Emily G. Allen ◽  
Weiya He ◽  
Ashima S. Amin ◽  
...  
Keyword(s):  
Telomere Length ◽  
Fragile X ◽  
Full Mutation ◽  
Fragile X Premutation ◽  
Full Mutation Allele ◽  
Mutation Allele

scholarly journals Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 798
Author(s):  
Alison Pandelache ◽  
David Francis ◽  
Ralph Oertel ◽  
Rebecca Dickson ◽  
Rani Sachdev ◽  
...  
Keyword(s):  
Southern Blot ◽  
Fragile X ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Full Mutation ◽  
Fmr1 Premutation ◽  
Full Mutation Allele ◽  
History Of ◽  
Polymerase Chain

We describe a female with a 72 CGG FMR1 premutation (PM) (CGG 55–199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The proband had a high risk of having an affected pregnancy with a full mutation allele (FM) (CGG > 200), that causes FXS through hypermethylation of the FMR1 promoter. The CGG sizing analysis in this study used AmplideX triplet repeat primed polymerase chain reaction (TP-PCR) and long-range methylation sensitive PCR (mPCR). These methods detected a 73 CGG PM allele in the proband’s blood, and a 164 CGG PM allele in her male cultured chorionic villus sample (CVS). In contrast, the Southern blot analysis showed mosaicism for: (i) a PM (71 CGG) and an FM (285–768 CGG) in the proband’s blood, and (ii) a PM (165 CGG) and an FM (408–625 CGG) in the male CVS. The FMR1 methylation analysis, using an EpiTYPER system in the proband, showed levels in the range observed for mosaic Turner syndrome. This was confirmed by molecular and cytogenetic karyotyping, identifying 45,X0/46,XX/47,XXX lines. In conclusion, this case highlights the importance of Southern blot in pre- and postnatal testing for presence of an FM, which was not detected using AmplideX TP-PCR or mPCR in the proband and her CVS.

scholarly journals The vrille Gene of Drosophila Is a Maternal Enhancer of decapentaplegic and Encodes a New Member of the bZIP Family of Transcription Factors

Genetics ◽  
1997 ◽  
Vol 146 (4) ◽  
pp. 1345-1363 ◽  
Author(s):  
Hélène George ◽  
Régine Terracol
Keyword(s):  
Transcription Factors ◽  
Signal Transduction Pathway ◽  
Dorsoventral Patterning ◽  
Wing Vein ◽  
Human T Cell ◽  
Tadpole Tail ◽  
Bzip Domain ◽  
Bzip Family ◽  
Mutation Allele

We report here the genetical and molecular characterization of a new Drosophila zygotic lethal locus, vrille (vri). vri alleles act not only as dominant maternal enhancers of embryonic dorsoventral patterning defects caused by easter and decapentaplegic (dpp) mutations, but also as dominant zygotic enhancers of dpp alleles for phenotypes in wing. The vri gene encodes a new member of the bZIP family of transcription factors closely related to gene 9 of Xenopus laevis, induced by thyroid hormone during the tadpole tail resorption program, and NF-IL3A, a human T cell transcription factor that transactivates the interleukin-3 promoter. NF-IL3A shares 93% similarity and 60% identity with Vri for a stretch of 68 amino acids that includes the bZIP domain. Although all the alleles tested behave like antimorphs, the dominant enhancement is also seen with a nonsense mutation allele that prevents translation of the bZIP domain. Because of the strong dominant enhancement of dpp phenotypes by vri alleles in both embryo and wing, and also the similarity between the wing vein phenotypes caused by the vri and shortvein dpp alleles, we postulate that vri interacts either directly or indirectly with certain components of the dpp (a TGFβ homologue) signal transduction pathway.

scholarly journals A Pseudo-Full Mutation Identified in Fragile X Assay Reveals a Novel Base Change Abolishing an EcoRI Restriction Site

2008 ◽  
Vol 10 (5) ◽  
pp. 469-474 ◽  
Author(s):  
Shujian Liang ◽  
Harold N. Bass ◽  
Hanlin Gao ◽  
Caroline Astbury ◽  
Mehdi R. Jamehdor ◽  
...  
Keyword(s):  
Restriction Site ◽  
Fragile X ◽  
Base Change ◽  
Full Mutation ◽  
Ecori Restriction

scholarly journals Evidence for paternal transmission and heteroplasmy in the mitochondrial genome of Silene vulgaris, a gynodioecious plant

Heredity ◽  
2005 ◽  
Vol 95 (1) ◽  
pp. 50-58 ◽  
Author(s):  
D E McCauley ◽  
M F Bailey ◽  
N A Sherman ◽  
M Z Darnell
Keyword(s):  
Mitochondrial Genome ◽  
Silene Vulgaris ◽  
Paternal Transmission

scholarly journals Prenatal Glucocorticoid Exposure Modifies Endocrine Function and Behaviour for 3 Generations Following Maternal and Paternal Transmission

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Vasilis G. Moisiadis ◽  
Andrea Constantinof ◽  
Alisa Kostaki ◽  
Moshe Szyf ◽  
Stephen G. Matthews
Keyword(s):  
Endocrine Function ◽  
Paternal Transmission
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