Related Experiment Video
Updated: Dec 21, 2025
A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
Published on: October 2, 2018
ATP6AP1-CDG: Follow-up and female phenotype
Patryk Lipiński1, Dariusz Rokicki1, Anna Bogdańska2
1Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.
Insights
X-linked ATP6AP1 deficiency causes severe immunodeficiency and multi-organ disease. This study tracks disease progression, including hearing loss and alopecia, in affected siblings and carriers.
Area of Science:
- Genetics
- Immunology
- Metabolic disorders
Background:
- X-linked ATP6AP1 deficiency (ATP6AP1-CDG) presents with immunodeficiency, hepatic, gastric, and neurological issues.
- Previous reports detailed additional features like connective tissue abnormalities, hearing loss, and metabolic dysfunction.
Purpose of the Study:
- To describe the long-term follow-up and disease progression in siblings with ATP6AP1-CDG.
- To investigate potential clinical manifestations in female carriers of ATP6AP1-CDG.
Main Methods:
- Longitudinal clinical observation of three affected siblings.
- Clinical evaluation of three female carriers, including serum transferrin isoelectric focusing and urinalysis.
Main Results:
- Siblings exhibited progressive sensorineural hearing loss to total deafness, hair loss (alopecia), skin changes, and proteinuria.
- Female carriers showed normal serum transferrin isoelectric focusing, but two developed persistent proteinuria.
Conclusions:
- ATP6AP1-CDG is a progressive disorder with significant multi-systemic impact.
- Proteinuria may be a manifestation in both affected males and female carriers, warranting further investigation.
Abstract:
In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X-linked ATP6AP1 deficiency (ATP6AP1-CDG). In 2018, three other patients were reported with additional features: connective tissue abnormalities, sensorineural hearing loss, hyperopia, glomerular and tubular dysfunction, exocrine pancreatic insufficiency and altered amino acid and lipid metabolism. We here present a follow-up of three reported siblings showing progression of deafness to total hearing loss, progressive loss of hair up to alopecia, chestnut skin and, at last follow-up, in some of them proteinuria. Three female carriers showed a normal serum transferrin isoelectrofocusing but in two of them there was a persistent proteinuria.
More Related Videos
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Related Concept Videos
01:35Pedigree Analysis
01:43Incomplete Dominance