De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.
Abnormalities, Multiple
/ genetics
Child
Chromosome Deletion
Chromosomes, Human, Pair 19
/ genetics
DNA-Binding Proteins
/ genetics
Heterozygote
Humans
Intellectual Disability
/ genetics
MAP Kinase Kinase 2
/ genetics
Male
Megalencephaly
/ genetics
Mutation, Missense
Phenotype
Sleep Apnea Syndromes
/ genetics
Transcription Factors
/ genetics
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
received:
12
08
2019
accepted:
09
10
2019
revised:
05
10
2019
pubmed:
28
10
2019
medline:
14
7
2020
entrez:
25
10
2019
Statut:
ppublish
Résumé
Interstitial microdeletions at chromosome 19p13.3 are frequently associated with a constellation of clinical features including macrocephaly, characteristic face, intellectual disability, and sleep apnea. Previous studies in 25 patients with 19p13.3 microdeletions have revealed loss of MAP2K2 in 24 patients and that of PIAS4 and ZBTB7A in 23 patients, suggesting that these three adjacent genes are candidate genes for the phenotypic development in 19p13.3 microdeletions. We identified a de novo likely pathogenic heterozygous missense variant of ZBTB7A (NM_015898.3:c.1152C>G, p.(Cys384Trp)) in a Japanese boy with macrocephaly, intellectual disability, and sleep apnea. This variant affects the conserved cysteine residue forming the coordinate bond with Zn
Identifiants
pubmed: 31645653
doi: 10.1038/s10038-019-0690-5
pii: 10.1038/s10038-019-0690-5
doi:
Substances chimiques
DNA-Binding Proteins
0
Transcription Factors
0
ZBTB7A protein, human
0
MAP2K2 protein, human
EC 2.7.1.-
MAP Kinase Kinase 2
EC 2.7.12.2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
181-186Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP18ek0109301
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : 19ek0109278
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP19ek0109297
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