%0 Review
%T Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.
%A Yahalom C
%A Woods RL
%A Akula JD
%A Tan WH
%A Fulton A
%J Ophthalmic Genet
%V 44
%N 6
%D Dec 2023 10
%M 37038737
%F 1.274
%R 10.1080/13816810.2023.2170424
%X <B>UNASSIGNED: </B>Microcephaly and chorioretinopathy (MCCRP) is a rare autosomal recessive (AR) disorder characterized by microcephaly, developmental delay, chorioretinopathy, and visual impairment. We characterized the long-term phenotype of an additional patient with MCCRP associated with TUBCGP4 pathogenic variants and analysed previously reported cases in the literature.<BR><B>UNASSIGNED: </B>Analysis of clinical and genetic data of a patient with TUBGCP4-related MCCRP followed for more than 19 years and literature search for previously reported patients with TUBCGP4 variants using PubMed, Scopus, and Google Scholar.<BR><B>UNASSIGNED: </B>Molecular diagnosis using exome sequencing demonstrated two TUBCGP4 variants in trans: c.1669C>T (p.Arg557*) and c.1746 G>T (p.Leu582=). Clinical characteristics included microcephaly, microphthalmia, punched-out chorioretinal lesions, vision impairment, nystagmus, Tetralogy of Fallot and neurodevelopmental delay. Another six previously reported cases of TUBCGP4-related MCCRP were identified. Their clinical and genetic characteristics are compared.<BR><B>UNASSIGNED: </B>TUBCGP4-related microcephaly and chorioretinopathy, is a rare autosomal recessive neuro-ophthalmic disorder. Clinical characteristics in our proband have remained stable for two decades. The pathophysiology of this syndrome is not yet fully understood.