Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.
TAB2
cardiomyopathy
carpal fusion
caudal appendage
skeletal dysplasia
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:
12 2022
12 2022
Historique:
revised:
12
05
2022
received:
04
02
2022
accepted:
19
05
2022
pubmed:
25
8
2022
medline:
15
11
2022
entrez:
24
8
2022
Statut:
ppublish
Résumé
Haplo-insufficiency of the TGFβ-activated kinase 1 binding protein 2 (TAB2) gene is associated with short stature, facial dysmorphisms, connective tissue abnormalities, hearing loss, and cardiac disease. Skeletal dysplasia and sacral dimples are also found in a minority of patients. Here, we describe a 3-generation family with caudal appendage, other sacral anomalies, and skeletal abnormalities including hypoplasia of the iliac wings and scapulae, fusion of the carpal bones and stenosis of the spinal canal, as well as a remarkable course of prenatally-detected cardiomyopathy with characteristics changing over time. Genetic analysis showed a heterozygous nonsense variant in the TAB2 gene.
Identifiants
pubmed: 36000780
doi: 10.1002/ajmg.a.62929
pmc: PMC9804761
doi:
Substances chimiques
TAB2 protein, human
0
Adaptor Proteins, Signal Transducing
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
3510-3515Informations de copyright
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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