Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Abnormalities, Multiple
/ genetics
Adolescent
Adult
Anterior Eye Segment
/ abnormalities
Bone and Bones
/ abnormalities
Child
Child, Preschool
Ehlers-Danlos Syndrome
/ genetics
Female
Galactosyltransferases
/ genetics
Homozygote
Humans
Joint Instability
/ diagnosis
Mutation
/ genetics
Osteochondrodysplasias
/ diagnosis
Phenotype
Young Adult
Al-Gazali syndrome
B3GALT6
Beta3GalT6
dural ectasia
spondylodysplastic Ehlers-Danlos syndrome
spondyloepimetaphyseal dysplasia with joint laxity type 1
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:
10 2021
10 2021
Historique:
revised:
27
04
2021
received:
11
02
2021
accepted:
05
06
2021
pubmed:
24
6
2021
medline:
18
1
2022
entrez:
23
6
2021
Statut:
ppublish
Résumé
Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL Beighton type), Al-Gazali syndrome (ALGAZ), and a severe progeroid form of Ehlers-Danlos syndrome (EDSSPD2). In the 2017 Ehlers-Danlos syndrome (EDS) classification, Beta3GalT6-related disorders were grouped in the spondylodysplastic EDSs together with spondylodysplastic EDSs due to B4GALT7 and SLC39A13 mutations. Herein, we describe a patient with a previously unreported homozygous pathogenic B3GALT6 variant resulting in a complex phenotype more severe than spondyloepimetaphyseal dysplasia with joint laxity type 1, and having dural ectasia and aortic dilation as additionally associated features, further broadening the phenotypic spectrum of the Beta3GalT6-related syndromes. We also document the utility of repeating sequencing in patients with uninformative exomes, particularly when performed by using "first generations" enrichment capture methods.
Identifiants
pubmed: 34159694
doi: 10.1002/ajmg.a.62399
doi:
Substances chimiques
B3GALT6 protein, human
EC 2.4.1.-
Galactosyltransferases
EC 2.4.1.-
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3153-3160Informations de copyright
© 2021 Wiley Periodicals LLC.
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