TUBGCP4 - associated microcephaly and chorioretinopathy
Mariana Matioli Da Palma1, Fabiana Louise Motta1, Guilherme Eiichi Da Silva Takitani1
1Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.
Ophthalmic Genetics
|April 10, 2020
Summary
Microcephaly and chorioretinopathy type 3 (MCCRP3), caused by TUBGCP4 gene variants, presents with microcephaly and vision loss. This rare disorder may be linked to ciliopathy, expanding the known spectrum of these genetic conditions.
Area of Science:
- Genetics
- Ophthalmology
- Neurology
Background:
- Microcephaly and chorioretinopathy (MCCRP) is a rare, recessively inherited neuro-ophthalmologic disorder.
- MCCRP presents in three types: MCCRP1, MCCRP2, and MCCRP3.
- MCCRP3 is specifically linked to pathogenic variants in the tubulin-gamma complex-associated protein 4 (TUBGCP4) gene.
Observation:
- A case report details a patient with MCCRP3 diagnosed through molecular investigation of the TUBGCP4 gene.
- The patient exhibited microcephaly, microphthalmia, chorioretinopathy with a punched-out retinal appearance, dysmorphic facial features, reduced visual acuity, and learning difficulties.
- Additional features included obesity, stretch marks, acanthosis nigricans, scoliosis, and hypercholesterolemia, suggesting a potential ciliopathy link.
Findings:
- Two heterozygous variants in TUBGCP4 were identified: a novel nonsense variant (c.1380 G>A; p.Trp460*) and a synonymous variant (c.1746 G>T; p Leu582=).
- The patient's clinical presentation aligns with previously described MCCRP3 cases.
- The additional observed features suggest MCCRP3 might be associated with ciliopathies.
Implications:
- This study contributes to understanding the genetic basis of MCCRP3 and the role of TUBGCP4.
- The findings suggest that MCCRP3 could be part of a broader ciliopathy spectrum, similar to MCCRP2.
- Further research is needed to clarify the precise role of TUBGCP4 in cilium physiology and its connection to ciliopathies.
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