WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

Autor: Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Sikora W; Students' Scientific Society of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Pawlak M; Department of Ophthalmology, Poznan University of Medical Sciences, Poznan, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Kopaczewski B; Department of Neurosurgery, Karol Jonscher Clinical Hospital, Poznan University of Medical Sciences, Poznan, Poland., Urzykowska A; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland., Arts HH; Department of Pathology and Laboratory Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; IWK Health Centre, Clinical Genomics Laboratory, Halifax, Nova Scotia, Canada., Gotz-Więckowska A; Department of Ophthalmology, Poznan University of Medical Sciences, Poznan, Poland., Grenda R; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland., Latos-Bieleńska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Glazar R; Centers for Medical Genetics GENESIS, Poznan, Poland.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3071-3077. Date of Electronic Publication: 2022 Jul 25.
DOI: 10.1002/ajmg.a.62903
Abstrakt: Cranioectodermal dysplasia (CED) is rare heterogeneous condition. It belongs to a group of disorders defined as ciliopathies and is associated with defective cilia function and structure. To date six genes have been associated with CED. Here we describe a 4-year-old male CED patient whose features include dolichocephaly, multi-suture craniosynostosis, epicanthus, frontal bossing, narrow thorax, limb shortening, and brachydactyly. The patient presented early-onset chronic kidney disease and was transplanted at the age of 2 years and 5 months. At the age of 3.5 years a retinal degeneration was diagnosed. Targeted sequencing by NGS revealed the presence of compound heterozygous variants in the WDR35 gene. The variants are a novel missense change in exon 9 p.(Gly303Arg) and a previously described nonsense variant in exon 18 p.(Leu641*). Our findings suggest that patients with WDR35 defects may be at risk to develop early-onset retinal degeneration. Therefore, CED patients with pathogenic variation in this gene should be assessed at least once by the ophthalmologist before the age of 4 years to detect early signs of retinal degeneration.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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