Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
Cantù syndrome
KCNJ8
kir6.1
whole exome analysis
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:
06 2022
06 2022
Historique:
revised:
10
10
2021
received:
18
12
2020
accepted:
28
01
2022
pubmed:
5
3
2022
medline:
18
5
2022
entrez:
4
3
2022
Statut:
ppublish
Résumé
Cantù syndrome (CS) is a rare multisystemic disorder, characterized by congenital hypertrichosis, macrocephaly, facial dysmorphisms, cardiomegaly, vascular, and skeletal anomalies. From the cognitive point of view, most of the patients show a mild speech delay and a few of them present intellectual disability and learning difficulties. To date, most CS-reported cases are caused by heterozygous ABCC9 gene mutations. Only three patients with CS and heterozygous KCNJ8 gene variants have been reported. The authors here present the fourth case of CS with a variant in KCNJ8 in a 6-month-old baby. Diagnosis was reached through Trio-Whole Exome analysis that revealed a de novo missense variant in KCNJ8.
Identifiants
pubmed: 35243770
doi: 10.1002/ajmg.a.62710
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1661-1666Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
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