Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.
Abortion, Induced
Adult
Female
Fetus
/ abnormalities
Fibrillar Collagens
/ genetics
Genetic Predisposition to Disease
Genetic Variation
Gestational Age
Heredity
High-Throughput Nucleotide Sequencing
Humans
Male
Osteochondrodysplasias
/ diagnosis
Pedigree
Phenotype
Pregnancy
Recurrence
Syndrome
Exome Sequencing
Collagen
Elbow dislocation
Hip dislocation
Osteochondrodysplasia
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
received:
08
09
2020
accepted:
24
11
2020
revised:
16
10
2020
pubmed:
8
1
2021
medline:
10
9
2021
entrez:
7
1
2021
Statut:
ppublish
Résumé
Steel syndrome (STLS) encompasses characteristic facies, dwarfness, irreducible bilateral hip and radial head dislocation, and carpal bone coalition due to COL27A1 mutations. Two consecutive pregnancies in a non-consanguineous couple were terminated because of severe fetal anomalies. Complete autopsies with microscopic exam were performed on both fetuses. Next-generation-based clinical exome sequencing was applied to the first fetus. Exome sequencing results, parental segregation, and affection of the second fetus were confirmed by Sanger sequencing. Both fetuses had signs consistent with STLS. Bilateral capitulum humeri absence explained radial head dislocation in STLS. Metaphyseal cartilage showed severe disorganization. Resting cartilage was hypercellular, organized in irregular nests limited by acellular matrix. Two variants in COL27A1 (c.2548G>A -p.Gly850Arg- and c.3249+1G> T) were found in both fetuses in compound heterozygosity with parental Mendelian segregation. This is the first report to include histology of STLS. The COL27A1 variants here described increase the number of mutations associated with STLS.
Identifiants
pubmed: 33411029
doi: 10.1007/s00428-020-02979-2
pii: 10.1007/s00428-020-02979-2
doi:
Substances chimiques
COL27A1 protein, human
0
Fibrillar Collagens
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
413-418Subventions
Organisme : Instituto de Salud Carlos III
ID : PI17/01153
Informations de copyright
© 2021. Springer-Verlag GmbH Germany, part of Springer Nature.
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