Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

• Published in: Human genetics Vol. 132; no. 5; pp. 537 - 552
• Main Authors: Lindgren, Amelia M., Hoyos, Tatiana, Talkowski, Michael E., Hanscom, Carrie, Blumenthal, Ian, Chiang, Colby, Ernst, Carl, Pereira, Shahrin, Ordulu, Zehra, Clericuzio, Carol, Drautz, Joanne M., Rosenfeld, Jill A., Shaffer, Lisa G., Velsher, Lea, Pynn, Tania, Vermeesch, Joris, Harris, David J., Gusella, James F., Liao, Eric C., Morton, Cynthia C.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.05.2013; Springer; Springer Nature B.V
• Subjects: Abnormalities, Multiple - genetics; Animals; Biomedical and Life Sciences; Biomedicine; Birth defects; Branchial Region - enzymology; Cell Line; Chromosome 5; Chromosomes, Human, Pair 5 - genetics; Cleft lip/palate; Cleft palate; Cleft Palate - genetics; Comparative Genomic Hybridization; Copy number; Danio rerio; DNA Copy Number Variations; DNA sequencing; Female; Fluorescence; Fluorescence in situ hybridization; Gene Function; Gene Knockdown Techniques; Genomes; Genomics; Growth; Haploinsufficiency; Haploinsufficiency - genetics; Histone Demethylases - genetics; Histone Demethylases - metabolism; Histone methyltransferase; Human Genetics; Humans; Hybridization; Intellectual disabilities; Intellectual Disability - genetics; Karyotyping; Lysine; Metabolic Diseases; Methyltransferase; Microcephaly; Microcephaly - genetics; Microencephaly; Molecular Medicine; Muscle Hypotonia - genetics; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Nucleotide sequencing; Original Investigation; Pharynx; Phenotype; Phenotypes; Psychomotor Disorders - genetics; Seizures; Seizures (Medicine); Seizures - genetics; Translocation, Genetic; Whole genome sequencing; X Chromosome - genetics; Young Adult; Zebrafish - embryology; Zebrafish - genetics; Zebrafish - growth & development; Zebrafish Proteins - genetics; Zebrafish Proteins - metabolism; Cleft Palate; Dysmorphic Facial Feature; Pharyngeal Arch; Translocation Breakpoint; Kabuki Syndrome

We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence in situ hybridiza...