A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12.
| Autor: | Abo El Fotoh WMM; Department of Pediatrics, Faculty of Medicine, Menoufia University Hospitals, Menoufia, Egypt., Al-Fiky AF; Department of Pediatrics, Faculty of Medicine, Menoufia University Hospitals, Menoufia, Egypt. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric genetics [J Pediatr Genet] 2020 Sep; Vol. 9 (3), pp. 198-202. Date of Electronic Publication: 2019 Nov 04. |
| DOI: | 10.1055/s-0039-1700804 |
| Abstrakt: | Nephronophthisis (NPHP) is one of the renal ciliopathies and is also a cystic renal disorder with an autosomal recessive inheritance, which usually progresses to end-stage renal disease (ESRD). It affects children, adolescents, and young adults. In approximately 15% of cases, the features of a ciliopathy syndrome, which include liver fibrosis, skeletal anomalies, retinal abnormalities, and neurodevelopmental delay, will be present. We describe a case of a 2-year-old male child with ESRD on hemodialysis and a family record of a similar condition (his brother). The clinical features of this child are succinctly summarized. The genetic study was conducted using whole exome sequencing. TTC21B mutational variants were detected in our patient who exhibited nephrotic-range proteinuria, focal segmental glomerulosclerosis, and tubulointerstitial lesions that evolved to ESRD. Compound heterozygous mutations, c.626c > t (p.P209L) in exon 6 and c.450 g > a (p.W150Ter) in exon 5, were uncovered. These findings are in line with the description of autosomal recessive NPHP type 12. Both clinical and pathological diagnoses of NPHP are critical, bearing in mind ESRD as well as its related extrarenal defining features. Identification of the pathogenic variants in the TTC21B gene assisted in the successful proof of the clinical diagnosis NPHP12 as well as providing information for formal suitable prenatal counseling. Competing Interests: Conflict of Interest None declared. (© Thieme Medical Publishers.) |
| Databáze: | MEDLINE |
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