Aralde A, Fernández SA, Barros MI, Montanari D, Correa UC

Language: Spanish
References: 15
Page: 151-155
PDF size: 210.57 Kb.

ABSTRACT

Ciliopathies encompass numerous clinical entities caused by anomalies in the structure or function of primary cilia. Among them, Jeune Syndrome (JS) is described as a rare skeletal dysplasia with its variants: type I with short survival and type II with a narrow thorax, shortening of long bones, pelvic abnormalities, cardiac and renal complications, pulmonary hypoplasia, retinitis pigmentosa, and normal intellect.
This report describes an 8-year-old girl with a clinical diagnosis of type II JS and end-stage chronic kidney disease. The genetic study detected variants in DYNC2I1 (probably a pathogenic heterozygous variant), TTC21B (a heterozygous variant of uncertain clinical significance), and ACAN genes (a heterozygous variant of uncertain clinical significance).The detected variants are located in genes related to the structure and function of the primary cilia, suggesting that the observed clinical feature in the case is a ciliopathy.

REFERENCES

1. Baujat G, et al. Asphyxiating thoracic dysplasia:clinical and molecular review of 39 families. Genotypephenotype correlations. Journal of Medical Genetics. 2012 Volume 50, Issue 2:91-8.

2. Davis E, Zhang Q, Liu Q, Diplas B H, Davey L M,et al. TTC21B contributes both causal and modifyingalleles across the ciliopathy spectrum. Nature Genet.2011. 43: 189-196, 2011. Note: Erratum: NatureGenet. 2011. 43: 499 only.

3. De Vries J, et al. Jeune syndrome: description of 13cases and a proposal for follow up protocol OriginalPaper. Eur J Pediatr. 2010. 169: 77 88 5

4. Gleghorn L, Ramesar R, Beighton P, Wallis G. Amutation in the variable repeat region of the aggrecangene (AGC1) causes a form of spondyloepiphysealdysplasia associated with severe, prematureosteoarthritis. Am. J. Hum. Genet. 2005. 77: 484-490.

5. Guajardo González C D, et al. Hallazgos renales en unpaciente con distrofia torácica asfixiante (síndrome deJeune). Bol Med Hosp Infant Méx. 1991. 48(1): 46-50.

6. Huber C, Cormier-Daire V. Ciliary disorder of theskeleton. Am J Med Genet. 160C: 165-174, 2012.

7. McInerney-Leo AM, Schmidts M, Cortes CR, LeoPJ, Gener B, et al. Short –ribs polydactyly and Jeunesyndromes are caused by mutations in WDR60. Am. J.Hum. Genet. 93: 515-523, 2013.

8. McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, et al. Whole exome sequencing is anefficient, sensitive and specific method for determiningthe genetic cause of short-ribs thoracic dystrophies.Clin. Genet. 88: 550-557, 2015.

9. Rémi S, et al. Nephronoptisis.Educational Review.Pediatr Neprohol (2009) 24:2333 2344. 13

10. Shah K J et al. Renal lession in Jeune´s syndrome.British Journal of Radiology. 53, 432 436, 1980. 14

11. Stokman M, Lilien M, Knoers N. Nephronophthisis-Related Ciliopathies Synonym: NPHP-RC. GeneReviews®[https://www.ncbi.nlm.nih.gov/books/NBK1116]. June 23, 2016. Last Update: March 2, 2023.

12. Van De Weghe JC, Gómez A, Doherty D. TheJoubert–Meckel–Nephronophthisis Spectrum ofCiliopathies. Annu Rev Genomics Hum Genet. 2022.August 31; 23: 301–329.

13. Ver Diehl A, et al. An atypical 0.73MBmicroduplication of 22q11.2 and a novel SALL4missense mutation associated with thumb agenesisand radioulnar synostosis. American Journal of MedicalGenetics 2015. Part A. 167(7), 1644-1649.

14. WalzakSztulpa J, Wawwrocka A, Doornbos C,Van Beek R, et al. Identical IFT140 variants causevariable skeletal ciliopathy. Challenges for the accuratediagnosis. Frontiers in Genetics. July 2022. Volume 13.

15. Zapata Aguilar E, et al. Síndrome de Jeune en unpaciente pediátrico: reporte de caso clínico. Horiz Med2018; 18(3):90 95.