Ontology highlight
ABSTRACT:
SUBMITTER: Lindgren AM
PROVIDER: S-EPMC3627823 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Lindgren Amelia M AM Hoyos Tatiana T Talkowski Michael E ME Hanscom Carrie C Blumenthal Ian I Chiang Colby C Ernst Carl C Pereira Shahrin S Ordulu Zehra Z Clericuzio Carol C Drautz Joanne M JM Rosenfeld Jill A JA Shaffer Lisa G LG Velsher Lea L Pynn Tania T Vermeesch Joris J Harris David J DJ Gusella James F JF Liao Eric C EC Morton Cynthia C CC
Human genetics 20130125 5
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 hybridization and whole-genome sequencing demonstrated that the X chromosome breakpoint disrupts KDM6A in the second intron. No genes were directly disrupted on chromosome 5. KDM6A is a histone 3 lysine 27 dem ...[more]