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A NOVEL DE NOVO LIKELY PATHOGENIC VARIANT OF WFS-1 GENE IN A PAKISTANI CHILD WITH NON-CLASSIC WFS-1 SPECTRUM DISORDER.
J Ayub Med Coll Abbottabad
November 2024
Kaiser Permanente, Riverside, CA-USA.
Abstract: Wolfram syndrome is a progressive neurodegenerative disorder caused by an alteration in the WFS-1 gene, located on chromosome 4p16.1 and is characterized by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). WFS-1 gene encodes for a transmembrane protein termed Wolframin found in the membrane of the endoplasmic reticulum.
View Article and Find Full Text PDFA familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.
Chromosome Res
November 2024
Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Chromosome 4p16.3 microdeletions are known to cause Wolf-Hirschhorn syndrome (WHS), which is characterized by a distinct craniofacial gestalt and multiple congenital malformations. The 4p16.
View Article and Find Full Text PDF[Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Center for Molecular Diagnostics, Qingyuan Hospital Affiliated to Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, Guangdong 511518, China.
Objetive: To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).
Methods: A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People's Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA).
Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications.
Taiwan J Obstet Gynecol
September 2024
Department of Medical Genetics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital), Weihai, China. Electronic address:
Objective: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation.
Case Report: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.
Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.
Genes (Basel)
July 2024
Department of Human Pathology of Adulthood and Childhood G. Barresi, University of Messina, 98125 Messina, Italy.
Article Synopsis
- * The disorder is caused by mutations in a gene on chromosome 4p16, which produces a protein called wolframin, crucial for cellular functions related to insulin signaling and stress response.
- * Currently, there are no specific treatments for WS1; however, early diagnosis and genetic counseling can help manage symptoms and extend care to affected families, highlighting the need for ongoing research to find new therapies.
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