scholarly journals FOXL2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Foxl2 Gene

A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis–ptosis–epicanthus inversus syndrome

2015 ◽  
Vol 22 (11) ◽  
pp. 1264-1268 ◽  
Author(s):  
Nikolaos Settas ◽  
Margarita Anapliotou ◽  
Emmanuel Kanavakis ◽  
Helen Fryssira ◽  
Christalena Sofocleous ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Primary Ovarian Insufficiency ◽  
Ovarian Insufficiency ◽  
Foxl2 Gene

A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I

2014 ◽  
Vol 27 (1-2) ◽  
Author(s):  
Alejandro Martinez-Aguayo ◽  
Helena Poggi ◽  
Andreina Cattani ◽  
Marcela Molina ◽  
Eliana Romeo ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Foxl2 Gene

scholarly journals Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

PLoS Genetics ◽  
2013 ◽  
Vol 9 (3) ◽  
pp. e1003358 ◽  
Author(s):  
Hannah Verdin ◽  
Barbara D'haene ◽  
Diane Beysen ◽  
Yana Novikova ◽  
Björn Menten ◽  
...  
Keyword(s):  
Recurrent Disease ◽  
Regulatory Domain ◽  
Foxl2 Gene

scholarly journals Molecular Genetic Analysis of FOXL2 Gene in Two Iranian Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Nooshin Asgari ◽  
Mohammad Taghi Akbari ◽  
Faravareh Khordadpoor Deilamani ◽  
Gholamreza Babamohammadi
Keyword(s):  
Novel Mutation ◽  
Direct Sequencing ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Premature Menopause ◽  
Type I ◽  
Forkhead Transcription Factor ◽  
Salting Out ◽  
Foxl2 Gene

Background: Blepharophimosis-ptosis-epicanthus syndrome (BPES) is a rare genetic disorder with autosomal dominant inheritance. There are two distinct phenotypes: BPES type I, which is associated with eyelid abnormalities as well as female infertility or premature menopause due to ovarian resistance to gonadotropins, whereas in type II only eyelid abnormalities are present. Mutations in the forkhead transcription factor 2 (FOXL2) gene are responsible for both types of BPES. Objectives: The purpose of this study was to identify mutations in FOXL2 in two Iranian families (from Tehran) with BPES who were referred to Tehran Medical Genetics laboratory. Methods: The peripheral blood was collected from the affected members of two BPES families and genomic DNA was extracted using salting out method. Then, direct sequencing of whole exon of FOXL2 genewas performed. Results: Two frameshift mutations were identified in FOXL2 gene in two familial cases including NM_023067:c.102_103insA (p.G35Rfs*61)as a novel mutation and NM_023067:c.855_871dup (p.H291Rfs*71) (17-bp insertion). Both mutations cause the protein to be truncated and are responsible for a severe phenotype (BPES type I) which was in harmony with our finding. Conclusions: Our results increased the spectrum of FOXL2 mutations and confirm the mutations associated with BPES type I.

scholarly journals Investigation of intersexual polled goats

2015 ◽  
pp. 11-15
Author(s):  
Judit Bordán ◽  
András Kovács ◽  
Szilárd Bodó
Keyword(s):  
Sex Ratio ◽  
Mammalian Species ◽  
Sex Reversal ◽  
Ovary Development ◽  
X Chromosomes ◽  
Ovary Cells ◽  
Male Sex ◽  
Sox9 Gene ◽  
Foxl2 Gene

The sex reversal may occur in all mammalian species, but is connected to a favourable trait – the polledness – only in the goat. Later abnormal sex ratio was noticed in these goat populations, in which a part of the phenotypically male individuals was sterile. These males have two X chromosomes. In goats the PIS (Polled Intersex Syndrome) mutation is responsible for the absence of horns in homozygous and heterozygous individuals. This same mutation causes a female-to-male sex reversal, but only in the homozygous polled genetic female goats. The PIS mutation inhibits the expression of the FOXL2 gene which is responsible for ovary development, and a protein encoded by this gene inhibits the activity of the Sox9 gene. The Sox9 gene stimulates the development of the cells of the testis. When the FOXL2 gene is inhibited, the Sox9 gene is activated and transforms the ovary cells into testis cells. In our article we briefly introduce the morphological and chromosome investigations of three intersex individuals we found.

scholarly journals Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

2006 ◽  
Vol 119 (1) ◽  
pp. 49-52 ◽  
Author(s):  
June Siu-fong OR ◽  
Tony Ming-for TONG ◽  
Ivan Fai-man LO ◽  
Stephen Tak-sum LAM
Keyword(s):  
Gene Mutations ◽  
Chinese Patients ◽  
Foxl2 Gene

Mutations of the Transcription Factor FOXL2 Gene in Chinese Patients with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

2009 ◽  
Vol 13 (2) ◽  
pp. 257-268 ◽  
Author(s):  
Dongmei Li ◽  
Wotan Zeng ◽  
Jing Tao ◽  
Shentao Li ◽  
Chen Liang ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Chinese Patients ◽  
Foxl2 Gene
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