Two cases of 16q12.1q21 deletions and refinement of the critical region.
Child
Chromosome Deletion
Chromosome Disorders
/ genetics
Chromosomes, Human, Pair 16
/ genetics
Cleavage And Polyadenylation Specificity Factor
/ genetics
Craniofacial Abnormalities
/ genetics
Developmental Disabilities
/ genetics
GTP-Binding Protein alpha Subunits, Gi-Go
/ genetics
Homeodomain Proteins
/ genetics
Humans
Male
Syndrome
Transcription Factors
/ genetics
16q interstitial deletion
16q12.1q21
GNAO1
Metallothionein
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:
Jun 2020
Jun 2020
Historique:
received:
16
07
2019
revised:
27
01
2020
accepted:
07
02
2020
pubmed:
12
2
2020
medline:
30
12
2020
entrez:
12
2
2020
Statut:
ppublish
Résumé
Interstitial deletions of 16q chromosome including 16q12.1q21 region are very rare, with only three cases reported to date. Main clinical features include dysmorphisms, short stature, microcephaly, eye abnormalities, epilepsy, development delay, intellectual disability, and autism spectrum disorder. We report two independent subjects with 16q12.1q21 deletion syndrome presenting with dysmorphic facial features, developmental delay, strabismus, and aggressive behavior. A minimal region of overlap spanning 1.7 Mb on chromosome 16, including IRX5, GNAO1, and NUDT21 genes was shared among these two cases and those previously reported. This minimal region of overlap suggests the potential pathogenic role of these genes, previously implicated in diseases of the central nervous system.
Identifiants
pubmed: 32045705
pii: S1769-7212(19)30485-9
doi: 10.1016/j.ejmg.2020.103878
pii:
doi:
Substances chimiques
Cleavage And Polyadenylation Specificity Factor
0
GNAO1 protein, human
0
Homeodomain Proteins
0
IRX5 protein, human
0
Nudt21 protein, human
0
Transcription Factors
0
GTP-Binding Protein alpha Subunits, Gi-Go
EC 3.6.5.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103878Informations de copyright
Copyright © 2020 Elsevier Masson SAS. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare no conflicts of interest and they received no primary funding for this research.