Article: Novel In-Frame Deletion
2024 Volume 10, Issue 1, Page(s) e200116
Abstract: Objectives: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF) is caused by heterozygous : Methods: We conducted whole-exome sequencing and confirmatory Sanger sequencing on the proband, the mother, and ... ...
Abstract | Objectives: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF) is caused by heterozygous Methods: We conducted whole-exome sequencing and confirmatory Sanger sequencing on the proband, the mother, and unaffected grandparents with wild-type genotypes. Results: The phenotypes of the mother and 2 daughters presented muscular hypotonia, global developmental delay, speech delay, intellectual disability, macrocephaly, facial dysmorphic features, and focal corpus callosum hypoplasia. Whole-exome sequencing identified a novel in-frame deletion, c.2017_2019del (p.Phe673del) in Discussion: This report presents a new possible mechanism underlying IDDSADF caused by CNOT3 variants-an in-frame deletion. The findings enhance our understanding of early-life neurodevelopment and the genotype-phenotype relationships of IDDSADF caused by |
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Language | English |
Publishing date | 2024-01-03 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 2818607-2 |
ISSN | 2376-7839 |
ISSN | 2376-7839 |
DOI | 10.1212/NXG.0000000000200116 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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