Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea
| العنوان: | Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea |
|---|---|
| المؤلفون: | Yanyan Qian, Ying Huang, Ping Zhang, Renchao Liu, Caihong Shao, Huijun Wang, Yulan Lu, Bingbing Wu |
| المصدر: | Frontiers in Genetics Frontiers in Genetics, Vol 12 (2021) |
| بيانات النشر: | Frontiers Media SA, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, Genetic counseling, media_common.quotation_subject, Nonsense, diarrhea, Case Report, Proprotein convertase 1, Disease, QH426-470, Hypoglycemia, uniparental isodisomy, Genetics, Medicine, Genetics (clinical), media_common, business.industry, PCSK1 gene, Chromosome, medicine.disease, infant, Diarrhea, Uniparental Isodisomy, Molecular Medicine, medicine.symptom, business |
| الوصف: | Congenital diarrhea diseases are a heterogeneous group of conditions and are the major cause of neonatal mortality worldwide. Proprotein convertase 1/3 (PC1/3) deficiency has been associated with severe malabsorptive diarrhea, obesity, and certain endocrine abnormalities. We report an infant born to non-consanguineous parents who is diagnosed with PC1/3 deficiency due to nonsense homozygous variant (c.238 C>T, p.Arg80Ter) in the PCSK1 gene, identified by Trio-exome sequencing (Trio-ES). The baby girl presented with recurrent diarrhea, transient liver dysfunction and hypoglycemia. Trio-ES showed complete maternal uniparental isodisomy (iUPD) of chromosome 5. Our finding provides accurate genetic counseling to this family and expands the clinical spectrum of iUPD with pathogenic variants causing recessive disease. |
| تدمد: | 1664-8021 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a53d8913b93d8493099b2fd0841935aTest https://doi.org/10.3389/fgene.2021.668326Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....3a53d8913b93d8493099b2fd0841935a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16648021 |
|---|