Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.
DRC1
aberrant left subclavian artery
primary ciliary dyskinesia
vascular ring
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:
03 2022
03 2022
Historique:
received:
06
07
2021
accepted:
10
11
2021
pubmed:
2
12
2021
medline:
19
4
2022
entrez:
1
12
2021
Statut:
ppublish
Résumé
We present a case of a female diagnosed with primary ciliary dyskinesia (PCD) type 21 with non-previously reported extrapulmonary symptoms, including facial features and congenital vascular anomalies. Whole genome sequencing in our patient revealed a homozygous pathogenic variant in the DRC1 gene and no other notable structural nor punctual variants. This case demonstrates a unique clinical manifestation of PCD, which is possibly associated with the presence of a homozygous pathogenic DRC1 variant. Therefore, we suggest that analysis of DRC1 be considered with PCD type 21 when such features are present.
Identifiants
pubmed: 34851034
doi: 10.1002/ajmg.a.62586
doi:
Substances chimiques
DRC1 protein, human
0
Microtubule-Associated Proteins
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
965-969Informations de copyright
© 2021 Wiley Periodicals LLC.
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