ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases
We identified homozygous <i>ANKS6</i> variants in three families presenting with antenatal polycystic kidney disease. The findings provide an expanded clinical presentation of <i>ANKS6</i> and emphasize the utility of WES in the diagnosis of echogenic kidneys in prenatal settings.
Authors
- Mohamed H. Al‐Hamed (ORCID: https://orcid.org/0000-0002-7207-6122)
- Holly R. Mabillard (ORCID: https://orcid.org/0000-0001-6725-7570)
- Faiqa Imtiaz (ORCID: https://orcid.org/0000-0002-2961-5733)
- John Andrew Sayer (ORCID: https://orcid.org/0000-0003-1881-3782)
- Amal Alhashem (ORCID: https://orcid.org/0000-0002-9668-7809)
- Khalid Khalaf Alharbi (ORCID: https://orcid.org/0000-0001-8355-5033)
- Huda I. Tulbah (ORCID: https://orcid.org/0000-0002-9529-9791)
- Lama S. Almohlesy (ORCID: https://orcid.org/0009-0001-7984-3814)
- Manar Matar Alhajooj
Institutions
- Riyadh Armed Forces Hospital (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- King Saud University (SA)
- National Institute for Health and Care Research (GB)
- NIHR Newcastle Biomedical Research Centre (GB)
- Arabian Gulf University (BH)
- Newcastle University (GB)
Publication Details
- Journal
- Genes
- Published
- 2024-10-25
- DOI
- https://doi.org/10.3390/genes15111374
- Citations
- 1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- National Institute for Health and Care Research
- King Faisal Specialist Hospital and Research Centre
- National Institutes of Health
- Medical Research Council