title: Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.
abstract: A 48-year-old woman with late infantile onset mental retardation developed megacolon. Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a new 3-base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B. This suggests that screening for ZFHX1B mutations is warranted even in the absence of typical clinical features of the syndrome.
authors.affiliation: Second Department of Internal Medicine, Fukui Medical University, Fukui, Japan. myoneda@fmsrsa.fukui-med.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Yoneda
authors.forename: T
authors.initials: T
authors.lastname: Fujita
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: A
authors.initials: A
authors.lastname: Fujii
authors.forename: T
authors.initials: T
authors.lastname: Inagaki
authors.forename: H
authors.initials: H
authors.lastname: Nakagawa
authors.forename: A
authors.initials: A
authors.lastname: Shimada
authors.forename: M
authors.initials: M
authors.lastname: Kishikawa
authors.forename: M
authors.initials: M
authors.lastname: Nagaya
authors.forename: T
authors.initials: T
authors.lastname: Azuma
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
authors.forename: N
authors.initials: N
authors.lastname: Wakamatsu
mesh_terms: D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D004722:Endoribonucleases; D005260:Female; D017353:Gene Deletion; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008531:Megacolon / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics
chemical_list: D015534:Trans-Activators; D004247:DNA; D004722:Endoribonucleases; C466279:DCP1A protein, human