Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.
Abnormalities, Multiple
/ diagnosis
Calcinosis
/ diagnosis
Ear Diseases
/ diagnosis
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Infant
Intellectual Disability
/ diagnosis
Male
Muscular Atrophy
/ diagnosis
Mutation
Nerve Tissue Proteins
/ genetics
Phenotype
Transcription Factors
/ genetics
Primrose syndrome
ZBTB20
developmental delay
ectopic calcification
intellectual disability
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:
11 2019
11 2019
Historique:
received:
02
05
2019
revised:
18
06
2019
accepted:
03
07
2019
pubmed:
20
7
2019
medline:
5
8
2020
entrez:
20
7
2019
Statut:
ppublish
Résumé
Primrose syndrome (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, macrocephaly, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene. We report the cases of two males diagnosed with PRIMS at different ages, emphasizing the likely progressive nature of the disorder, as well as the differences and similarities of presentation during infancy and adulthood. Patient 1 is a 2-year-old American male with a medical history marked by impaired hearing, developmental delays, and fainting spells. Patient 2 is a 28-year-old Brazilian male, who presents with a phenotype similar to that seen in Patient 1 with additional features of ectopic calcifications and prominent muscular and skeletal abnormalities. Additionally, Patient 2 has a history of fainting spells and diminished body height and weight, with the latter features having only been reported in one PRIMS patient so far. Both Patients 1 and 2 were found to carry heterozygous likely pathogenic missense variants, detected in the last coding exon of ZBTB20 (c.1822T>C, p.Cys608Arg, de novo, and c.1873A>G, p.Met625Val, respectively), consistent with PRIMS. Overall, these case reports highlight PRIMS's likely progressive nature and contribute to the understanding of the natural history of this condition.
Identifiants
pubmed: 31321892
doi: 10.1002/ajmg.a.61297
doi:
Substances chimiques
Nerve Tissue Proteins
0
Transcription Factors
0
ZBTB20 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2228-2232Subventions
Organisme : Conselho Nacional de Desenvolvimento Científico e Tecnológico
ID : 310150/2016-7
Pays : International
Organisme : Fundação de Amparo à Ciência e Tecnologia do Estado de Pernambuco
ID : IBPG-0749-2.02/16
Pays : International
Organisme : Fundação de Amparo à Ciência e Tecnologia do Estado de Pernambuco
ID : IBPG-0750-2.02/16
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.
Références
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