title: The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.
abstract: The goal of this study is to define the effects of TCF4 hemizygosity in the context of a larger segmental deletion of chromosome 18q. Our cohort included 37 individuals with deletions of 18q. Twenty-seven had deletions including TCF4 (TCF4                         (+/-)); nine had deletions that did not include TCF4 (TCF4                         (+/+)); and one individual had a microdeletion that included only the TCF4 gene. We compared phenotypic data from the participants' medical records, survey responses, and in-person evaluations. Features unique to the TCF4                         (+/-) individuals included abnormal corpus callosum, short neck, small penis, accessory and wide-spaced nipples, broad or clubbed fingers, and sacral dimple. The developmental data revealed that TCF4                         (+/+) individuals were only moderately developmentally delayed while TCF4                         (+/-) individuals failed to reach developmental milestones beyond those typically acquired by 12 months of age. TCF4 hemizygosity also conferred an increased risk of early death principally due to aspiration-related complications. Hemizygosity for TCF4 confers a significant impact primarily with regard to cognitive and motor development, resulting in a very different prognosis for individuals hemizygous for TCF4 when compared to individuals hemizygous for other regions of distal 18q.
authors.affiliation: Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, San Antonio, TX 78229, USA.
authors.forename: Minire
authors.initials: M
authors.lastname: Hasi
authors.forename: Bridgette
authors.initials: B
authors.lastname: Soileau
authors.forename: Courtney
authors.initials: C
authors.lastname: Sebold
authors.forename: Annice
authors.initials: A
authors.lastname: Hill
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Hale
authors.forename: Louise
authors.initials: L
authors.lastname: O'Donnell
authors.forename: Jannine D
authors.initials: JD
authors.lastname: Cody
mesh_terms: D000293:Adolescent; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D015331:Cohort Studies; D019066:Facies; D005190:Family; D005260:Female; D005838:Genotype; D057898:Hemizygote; D006801:Humans; D006985:Hyperventilation / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013577:Syndrome; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C532096:TCF4 protein, human; D000073940:Transcription Factor 4; D014157:Transcription Factors