WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Bone and Bones
/ abnormalities
Child, Preschool
Craniosynostoses
/ complications
Cytoskeletal Proteins
/ genetics
Dwarfism
Ectodermal Dysplasia
Humans
Intracellular Signaling Peptides and Proteins
/ genetics
Kidney Failure, Chronic
Male
Mutation
Osteochondrodysplasias
Retinal Dystrophies
/ diagnosis
WDR35
ciliopathy
cranioectodermal dysplasia (Sensenbrenner syndrome)
early-onset retinal dystrophy (EORD)
end-stage renal disease (ESRD)
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
revised:
16
05
2022
received:
16
02
2022
accepted:
22
05
2022
pubmed:
26
7
2022
medline:
15
9
2022
entrez:
25
7
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35875935
doi: 10.1002/ajmg.a.62903
doi:
Substances chimiques
Cytoskeletal Proteins
0
Intracellular Signaling Peptides and Proteins
0
WDR35 protein, human
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3071-3077Informations de copyright
© 2022 Wiley Periodicals LLC.
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