Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
exome sequencing
fibular aplasia
fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome
genome sequencing
limb deficiency
monogenic
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:
04 2023
04 2023
Historique:
revised:
19
11
2022
received:
10
06
2022
accepted:
16
12
2022
pubmed:
8
1
2023
medline:
15
3
2023
entrez:
7
1
2023
Statut:
ppublish
Résumé
Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (MIM 246570) is a rare disorder characterized by specific skeletal findings (fibular aplasia, shortened or bowed tibia, and oligosyndactyly of the foot and/or hand). Typically, no other anomalies, craniofacial dysmorphism, or developmental delays are associated. Here we report three unrelated individuals with limb anomalies consistent with FATCO syndrome who have been followed clinically for 5 years. Genetic testing of previously reported individuals with FATCO syndrome has not revealed a genetic diagnosis. However, no broader sequencing approaches have been reported. We describe the results of the three individuals with FATCO syndrome from exome and genome sequencing, all of which was nondiagnostic. Our study suggests that FATCO syndrome is not the result of a simple monogenic etiology.
Identifiants
pubmed: 36610046
doi: 10.1002/ajmg.a.63105
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
977-982Informations de copyright
© 2023 Wiley Periodicals LLC.
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