De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

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...

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Veröffentlicht in:	Journal of human genetics 2020-01, Vol.65 (2), p.181-186
Hauptverfasser:	Ohishi, Akira, Masunaga, Yohei, Iijima, Shigeo, Yamoto, Kaori, Kato, Fumiko, Fukami, Maki, Saitsu, Hirotomo, Ogata, Tsutomu
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Age Apnea Child Chromosome 19 Chromosome Deletion Chromosomes Chromosomes, Human, Pair 19 - genetics DNA-Binding Proteins - genetics Gastroesophageal reflux Genes Genotype & phenotype Heterozygote Humans Intellectual disabilities Intellectual Disability - genetics Macrocephaly Male MAP Kinase Kinase 2 - genetics Medicine Megalencephaly - genetics Mutation, Missense Patients Phenotype Phenotypes Sleep Sleep apnea Sleep Apnea Syndromes - genetics Sleep disorders Transcription Factors - genetics Zinc finger proteins
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