The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions |
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Authors: | Minire Hasi Bridgette Soileau Courtney Sebold Annice Hill Daniel E. Hale Louise O’Donnell Jannine D. Cody |
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Affiliation: | (1) Department of Pediatrics, UT Health Science Center, 7703 Floyd Curl Dive, San Antonio, TX 78229, USA;(2) CHRISTUS Santa Rosa Children’s Hospital, San Antonio, TX, USA;(3) Department of Psychiatry, UT Health Science Center at San Antonio, San Antonio, USA;(4) The Chromosome 18 Registry and Research Society, San Antonio, TX, USA; |
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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. |
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