New evidence in mice suggests that cells expressing the transcription factor FOXC2 may form a reservoir of quiescent stem cells that contributes to sperm formation.
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| http://dx.doi.org/10.7554/eLife.90747 | DOI Listing |
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[Clinical features and genetic analysis of two Chinese pedigrees affected with Lymphedema-Distichiasis syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Center for Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Article Synopsis
- - The study investigates the prenatal and postnatal features, along with genetic traits, of Lymphedema-Distichiasis syndrome (LDS) in two Chinese families with FOXC2 gene mutations.
- - Genetic analysis revealed pathogenic variants in the FOXC2 gene for both families, with literature review yielding a total of 117 identified LDS patients, including prenatal signs in 13 cases and postnatal manifestations in 110.
- - Key prenatal symptoms of LDS include increased nuchal translucency and fetal edema, while postnatal symptoms commonly feature distichiasis and lymphedema, with only a few cases exhibiting signs before and after birth.
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Schlemm's canal (SC) functions to maintain proper intraocular pressure (IOP) by draining aqueous humor and has emerged as a promising therapeutic target for glaucoma, the second-leading cause of irreversible blindness worldwide. However, our current understanding of the mechanisms governing SC development and functionality remains limited. Here, we show that vitronectin (VTN) produced by limbal macrophages promotes SC formation and prevents intraocular hypertension by activating integrin αvβ3 signaling.
View Article and Find Full Text PDFOphtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.
Arch Soc Esp Oftalmol (Engl Ed)
April 2024
Servicio de Oftalmología, Hospital Clínico Universitario, Valencia, Spain.
Article Synopsis
- - Lymphedema distichiasis syndrome is a rare but common form of primary lymphedema, characterized by the presence of abnormal eyelashes (distichiasis) that can emerge during childhood or puberty, causing discomfort for affected individuals.
- - Clinicians should consider this syndrome during physical examinations, as its signs can lead to a specific diagnosis through genetic testing of the FOXC2 gene in the patient's serum.
- - Early diagnosis and treatment can significantly improve the quality of life for patients by addressing both the ophthalmologic issues and other systemic symptoms associated with the syndrome.
All eyes on FOXC2.
Elife
August 2023
Department of Neuroscience, Developmental and Regenerative Biology, University of Texas at San Antonio, San Antonio, United States.
New evidence in mice suggests that cells expressing the transcription factor FOXC2 may form a reservoir of quiescent stem cells that contributes to sperm formation.
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