Single-Gene Deletion of FGF3 in a Patient With Features of 11q13 Microdeletion Syndrome
Hamed Rahi1, Patricia I Dickson2,3, Tomi L Toler3
1Department of Pathology & Immunology, Washington University School of Medicine, Saint Louis, Missouri, USA.
Insights
A rare genetic condition, otodental syndrome, is linked to deletions in chromosome 11q13.3. This study shows that a deletion in the FGF3 gene alone can cause the key features of this syndrome.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Chromosome 11q13 microdeletion syndrome, also known as otodental syndrome, is characterized by dental, auditory, and ocular abnormalities.
- These anomalies are typically associated with deletions in the 11q13.2q13.4 chromosomal region.
Abstract:
Chromosome 11q13 microdeletion syndrome, or otodental syndrome, involves dental, auditory, and ocular anomalies linked to deletions in the 11q13.2q13.4 region. We report a 1-year-old girl with a 43 kb deletion of the FGF3 gene on chromosome 11q13.3, exhibiting otodental dysplasia, hearing difficulty, and developmental delay. Her family history includes permanent childhood hearing loss and otodental syndrome. Chromosomal microarray analysis (CMA) and sequencing confirmed a complete heterozygous deletion of FGF3. This case suggests that FGF3 haploinsufficiency is sufficient to cause the syndrome's key clinical features, emphasizing the need for further research and long-term follow-up.
More Related Videos
09:16Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
Related Concept Videos
02:30Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:33Pleiotropy