Abstract
Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3-54.7 Mb). The narrowed region comprises 10 protein coding genes, including DHX29. DHX29 is a strong candidate gene for the main features of 5q11.2-microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.
Original language | English |
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Pages (from-to) | 3844-3850 |
Number of pages | 7 |
Journal | American Journal of Medical Genetics Part A |
Volume | 185 |
Issue number | 12 |
Early online date | 2021 |
DOIs | |
Publication status | Published - Dec 2021 |
Keywords
- Abnormalities, Multiple/genetics
- Anemia, Macrocytic/genetics
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 5/genetics
- Comparative Genomic Hybridization
- Cytokine Receptor gp130/genetics
- Developmental Disabilities/genetics
- Facies
- Heart Defects, Congenital/genetics
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability/genetics
- Learning Disabilities/genetics
- Male
- Phenotype
- RNA Helicases/genetics
- 5q11.2 microdeletion syndrome
- DHX29
- developmental delay
- immunodeficiency
- shortest region of overlap