Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder
Abstract
:1. Introduction
2. Case Presentation
2.1. Patient 1
2.2. Patient 2
3. Results
4. Discussion
5. Methods
5.1. GTG Banding
5.2. FISH
5.3. Array CGH
5.4. WES
5.5. Targeted Mutation Analysis
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Patient 1 | Patient 2 | |
---|---|---|
Age | 4 years | 14 months |
Sex | male | female |
FOXP1 variant | c.1541G>A heterozygous | c.1541G>A heterozygous |
Neurobehavioral features | ||
History of hypotonia | + | + |
Motor delays | + | + |
Speech delays | + | + |
Swallowing or feeding problems | - | + |
ID or GDD | + | + |
ASD features | + | - |
Behavioral problems | + | - |
Dysmorphic features | ||
Head and facial features | prominent forehead frontal hair upsweep | prominent forehead frontal hair upsweep round face |
Eyes | ocular hypertelorism | ocular hypertelorism |
Ears | - | - |
Nose | wide nasal bridge broad nasal tip | wide nasal bridge broad nasal tip |
Mouth | - | - |
Extremities | - | - |
Other | - | - |
Medical features associated with FOXP1 syndrome | ||
Neurology | dyskinetic movements | - |
EEG | negative | N/A |
Brain MRI | smaller basal ganglia and cerebral atrophy | N/A |
Endocrinology | N/A | N/A |
Cardiac | N/A | N/A |
Nephrology/urology | - | N/A |
Ophthalmology | convergent strabismus | convergent strabismus |
Other medical problems | - | - |
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Zsigmond, A.; Till, Á.; Bene, J.; Czakó, M.; Mikó, A.; Hadzsiev, K. Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder. Int. J. Mol. Sci. 2024, 25, 5709. https://doi.org/10.3390/ijms25115709
Zsigmond A, Till Á, Bene J, Czakó M, Mikó A, Hadzsiev K. Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder. International Journal of Molecular Sciences. 2024; 25(11):5709. https://doi.org/10.3390/ijms25115709
Chicago/Turabian StyleZsigmond, Anna, Ágnes Till, Judit Bene, Márta Czakó, Alexandra Mikó, and Kinga Hadzsiev. 2024. "Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder" International Journal of Molecular Sciences 25, no. 11: 5709. https://doi.org/10.3390/ijms25115709