An associated cerebrorenal syndrome was first reported in consanguineous Bedouin kindred by Perez et al. in 2017. Although the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling and nuclear regulation, as well as in cell and mitochondrial zinc regulation. In this research report, we present a female proband with two distinct, inherited autosomal recessive loss-of-function variants from unrelated parents. To our knowledge, this is the first reported case of a possible associated cerebrorenal syndrome in a nonconsanguineous family. Furthermore, a limited statistical analysis was conducted to identify possible allele frequency differences between populations. Our findings provide further support for an -associated cerebrorenal syndrome and may help clarify the gene's function through its possible disease association.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958918 | PMC |
| http://dx.doi.org/10.1101/mcs.a006137 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Role of Antenatal Ultrasound in the Detection of Goldston Syndrome: A Case Report and Review of Literature.
Cureus
October 2024
Department of Radiodiagnosis, Sawai Man Singh (SMS) Medical College, Jaipur, IND.
Goldston syndrome (GS) is an extremely rare syndrome involving the central nervous system and kidneys. It is believed to have a familial association and an autosomal recessive inheritance and is characterized by the concomitant occurrence of cystic dysplastic kidneys and Dandy-Walker malformation. We report a case of antenatally detected GS at 22 weeks of gestation in a female with a consanguineous marriage.
View Article and Find Full Text PDFSLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development.
Cell Mol Life Sci
August 2024
Shenzhen Key Laboratory of Synthetic Genomics, Guangdong Provincial Key Laboratory of Synthetic Genomics, Key Laboratory of Quantitative Synthetic Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.
SLC30A9 (ZnT9) is a mitochondria-resident zinc transporter. Mutations in SLC30A9 have been reported in human patients with a novel cerebro-renal syndrome. Here, we show that ZnT9 is an evolutionarily highly conserved protein, with many regions extremely preserved among evolutionarily distant organisms.
View Article and Find Full Text PDFCase report: Birk-Landau-Perez syndrome linked to the gene-identification of additional cases and expansion of the phenotypic spectrum.
Front Genet
July 2023
Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The gene encodes a putative mitochondrial zinc transporter with ubiquitous expression, the highest found in the brain, kidney, and skeletal muscle. Since the first report, only one additional affected patient has been described, but there were some inconsistencies, such as hearing loss, failure to thrive, and neuroimaging findings between the clinical presentation of the disease in the Bedouin family and the second patient.
View Article and Find Full Text PDFAutosomal recessive variants in a proband with a cerebrorenal syndrome and no parental consanguinity.
Cold Spring Harb Mol Case Stud
February 2022
Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.
An associated cerebrorenal syndrome was first reported in consanguineous Bedouin kindred by Perez et al. in 2017. Although the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling and nuclear regulation, as well as in cell and mitochondrial zinc regulation.
View Article and Find Full Text PDFSLC-30A9 is required for Zn homeostasis, Zn mobilization, and mitochondrial health.
Proc Natl Acad Sci U S A
August 2021
National Laboratory of Biomacromolecules, Chinese Academy of Sciences Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China;
The trace element zinc is essential for many aspects of physiology. The mitochondrion is a major Zn store, and excessive mitochondrial Zn is linked to neurodegeneration. How mitochondria maintain their Zn homeostasis is unknown.
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!