TUBGCP4 - associated microcephaly and chorioretinopathy

• Published in: Ophthalmic genetics 2020-03, Vol.41 (2), p.189-193
• Main Authors: Da Palma, Mariana Matioli, Motta, Fabiana Louise, Takitani, Guilherme Eiichi Da Silva, Salles, Mariana Vallim, Lima, Luiz Henrique, Ferraz Sallum, Juliana Maria
• Format: Article
• Language: English
• Subjects: Child; Choroid Diseases - genetics; Choroid Diseases - pathology; Female; Humans; Microcephaly - genetics; Microcephaly - pathology; Microtubule-Associated Proteins - genetics; Mutation; Phenotype; Retinal Diseases - genetics; Retinal Diseases - pathology
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2020.1747084

Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the ( gene. This is a case report of a patient with a molecular diagnosis defined by mutations in the gene. Segregation analyses were carried out. The molecular investigation found two heterozygous variants c.1380 G > A (p.Trp460*) a novel nonsense variant, and c.1746 G > T (p Leu582=) a synonymous variant in . The clinical phenotype was characterized by microcephaly, microphthalmia, chorioretinopathy, a punched-out retinal appearance, dysmorphic facial features, decreased visual acuity, and learning difficulties. The clinical features were similar to those described previously in children with MCCRP3. The proband also had additional features including centripetal obesity, stretch marks, acanthosis nigricans, scoliosis, and hypercholesterolemia. These other features could be part of a ciliopathy syndrome. MCCRP2 caused by pathogenic variants in is well established as a ciliopathy disease. The role of is not well established in the cilium physiology. MCCRP3 may be part of the ciliopathy spectrum.