Unique skeletal manifestations in patients with Primrose syndrome.
Abnormalities, Multiple
/ genetics
Adolescent
Bone and Bones
/ abnormalities
Calcinosis
/ genetics
Child
Child, Preschool
Ear Diseases
/ genetics
Female
Humans
Intellectual Disability
/ genetics
Male
Muscular Atrophy
/ genetics
Nerve Tissue Proteins
/ genetics
Phenotype
SOXB1 Transcription Factors
/ genetics
Transcription Factors
/ genetics
Young Adult
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
25
03
2020
revised:
16
05
2020
accepted:
23
05
2020
pubmed:
31
5
2020
medline:
29
12
2020
entrez:
31
5
2020
Statut:
ppublish
Résumé
Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. It is caused by heterozygous variants in ZBTB20, a member of the POK family of transcription repressors. Recently, this gene was shown to have a role in skeletal development through its action on chondrocyte differentiation by repression of SOX9. We describe five unrelated patients with Primrose syndrome and distinct skeletal features including multiple Wormian bones, platybasia, bitemporal bossing, bathrocephaly, slender bones, epiphyseal and spondylar dysplasia. The radiological abnormalities of the skull and the epiphyseal dysplasia were the most consistent findings. This novel constellation of skeletal features expands the phenotypic spectrum of the disorder.
Identifiants
pubmed: 32473227
pii: S1769-7212(20)30269-X
doi: 10.1016/j.ejmg.2020.103967
pmc: PMC9445699
mid: NIHMS1829565
pii:
doi:
Substances chimiques
Nerve Tissue Proteins
0
SOX2 protein, human
0
SOXB1 Transcription Factors
0
Transcription Factors
0
ZBTB20 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103967Subventions
Organisme : Intramural NIH HHS
ID : ZIA HG200407
Pays : United States
Informations de copyright
Copyright © 2020 Elsevier Masson SAS. All rights reserved.
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