Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. The molecular basis is unknown. We report on a newborn infant with previously undescribed findings, including hydrops fetalis, primary pulmonary hypertension and unusually severe abnormalities of toes. We review clinical data on 22 published cases in order to delineate the phenotype of this condition. Clinical recommendations for prenatal and postnatal evaluation of patients and fetuses at risk are discussed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.32135 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Genet Med Open
March 2024
Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC, Canada.
Article Synopsis
- Biallelic variants in specific genes cause Yunis-Varón syndrome (YVS), which involves issues like skeletal deformities, facial abnormalities, and neurological problems.
- A study of five new YVS cases revealed symptoms aligning with YVS and neurological conditions, such as brain malformations and developmental delays.
- Research showed that in mice, osteopenia (low bone density) was more linked to reduced bone formation than bone degradation, emphasizing the need for further studies on genetic impacts and symptoms.
FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
Genes (Basel)
October 2024
School of Medicine, University of Crete, Crete, 70013 Heraklion, Greece.
: The genetic underpinnings of Parkinson's disease (PD) and parkinsonism have drawn increasing attention in recent years. Mutations in the Factor-Induced Gene 4 ( have been implicated in various neurological disorders, including Charcot-Marie-Tooth disease type 4J (CMT4J), amyotrophic lateral sclerosis (ALS), and Yunis-Varón syndrome. This review aims to explore the association between mutations and parkinsonism, with a specific focus on the rare missense mutation p.
View Article and Find Full Text PDFThe chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
PLoS Genet
June 2023
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
The phosphatase FIG4 and the scaffold protein VAC14 function in the biosynthesis of PI(3,5)P2, a signaling lipid that inhibits the lysosomal chloride transporter ClC-7. Loss-of-function mutations of FIG4 and VAC14 reduce PI(3,5)P2 and result in lysosomal disorders characterized by accumulation of enlarged lysosomes and neurodegeneration. Similarly, a gain of function mutation of CLCN7 encoding ClC-7 also results in enlarged lysosomes.
View Article and Find Full Text PDFAltered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
G3 (Bethesda)
August 2023
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
Loss-of-function mutations of FIG4 are responsible for neurological disorders in human and mouse that result from reduced abundance of the signaling lipid PI(3,5)P2. In contrast, loss-of-function mutations of the phosphoinositide kinase PIP4K2C result in elevated abundance of PI(3,5)P2. These opposing effects on PI(3,5)P2 suggested that we might be able to compensate for deficiency of FIG4 by reducing expression of PIP4K2C.
View Article and Find Full Text PDFChloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.
Mol Genet Metab
December 2022
Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, United States of America; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, United States of America.
Loss-of-function mutations of FIG4 impair the biosynthesis of PI(3,5)P and are responsible for rare genetic disorders including Yunis-Varón Syndrome and Charcot-Marie-Tooth Disease Type 4 J. Cultured cells deficient in FIG4 accumulate enlarged lysosomes with hyperacidic pH, due in part to impaired regulation of lysosomal ion channels and elevated intra-lysosomal osmotic pressure. We evaluated the effects of the FDA approved drug chloroquine, which is known to reduce lysosome acidity, on FIG4 deficient cell culture and on a mouse model.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!