Biallelic variants in <scp><i>TUBGCP6</i></scp> result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
Amanda Thomas‐Wilson, John P. Schacht, David Chitayat, Susan Blasér, Francis Jeshira Reynoso Santos, Kimberly Glaser, Alesky Caffo, Ingrid M. Wentzensen, Lindsay B. Henderson, Futao Zhang, Ying Zhu, Ellen Di Corleto, Fabrício da Silva Costa, Rebecca Vink, Ebba Alkhunaizi, Laura Russell, Michael F. Buckley, Tony Roscioli, Elaine M. Pereira, Mythily Ganapathi
Abstract
Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life. The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial reproductive plans. To date, only seven molecularly confirmed patients from five unrelated families have been reported. We report an additional four unrelated patients with TUBGCP6 variants including one prenatal diagnosis and review the clinical phenotypes and genotypes of all the known cases. This report expands the molecular and phenotypic spectrum of TUBGCP6 and includes additional prenatal findings associated with MCCRP1.