14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
ATPases Associated with Diverse Cellular Activities
/ genetics
Calmodulin
/ genetics
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 14
/ genetics
Comparative Genomic Hybridization
/ methods
Haploinsufficiency
/ genetics
Humans
Language Development Disorders
/ genetics
Male
Pedigree
Phenotype
Proteins
/ genetics
Ribosomal Protein S6 Kinases, 90-kDa
/ genetics
CALM1
PSMC1
RPS6KA5
TTC7B
developmental delay
microdeletion 14q32.11
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:
05 2021
05 2021
Historique:
revised:
14
12
2020
received:
12
08
2020
accepted:
23
01
2021
pubmed:
27
2
2021
medline:
10
8
2021
entrez:
26
2
2021
Statut:
ppublish
Résumé
Three unrelated patients with similar microdeletions of chromosome 14q32.11 with shared phenotypes including language and developmental delay, and four overlapping genes -CALM1, TTC7B, PSMC1, and RPS6KA5 have been presented. All four genes are expressed in the brain and have haploinsufficiency scores, which reflect low tolerance to loss of function variation. An insight on the genes in the overlapping region, which may influence the resulting phenotype has been provided. Given the three patients' similar phenotypes and lack of normal variation in this region, it was suggested that this microdeletion may be associated with developmental and language delay.
Identifiants
pubmed: 33634591
doi: 10.1002/ajmg.a.62117
doi:
Substances chimiques
CALM1 protein, human
0
Calmodulin
0
Proteins
0
TTC7A protein, human
0
Ribosomal Protein S6 Kinases, 90-kDa
EC 2.7.11.1
mitogen and stress-activated protein kinase 1
EC 2.7.11.1
ATPases Associated with Diverse Cellular Activities
EC 3.6.4.-
PSMC1 protein, human
EC 3.6.4.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1519-1524Informations de copyright
© 2021 Wiley Periodicals LLC.
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