title: A case report of de novo missense FOXP1 mutation in a non-Caucasian patient with global developmental delay and severe speech impairment.
abstract: The FOXP protein family (FOXP1-4) is a group of transcription factors that play important roles in embryological, immunological, hematological, and speech and language development. Here, we report FOXP1 de novo mutation and severe speech delay in an individual belonging to a non-Caucasian population.
authors.affiliation: Faculty of Medicine, Department of Medical Genetics, University of Tsukuba Tsukuba-city, Ibaraki, Tsukuba.
authors.forename: Hao
authors.initials: H
authors.lastname: Song
authors.affiliation: Faculty of Medicine, Department of Medical Genetics, University of Tsukuba Tsukuba-city, Ibaraki, Tsukuba.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Makino
authors.affiliation: Faculty of Medicine, Department of Medical Genetics, University of Tsukuba Tsukuba-city, Ibaraki, Tsukuba.
authors.forename: Emiko
authors.initials: E
authors.lastname: Noguchi
authors.affiliation: Faculty of Medicine, Department of Medical Genetics, University of Tsukuba Tsukuba-city, Ibaraki, Tsukuba.
authors.forename: Tadao
authors.initials: T
authors.lastname: Arinami
keywords: Exome; FOXP protein family; Haploinsufficiencies; Japanese