Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7

Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7

“…In this study, we report siblings with PCH7 and the radiological and clinical findings associated with this rare condition. To the best of our knowledge, no more than 20 cases have been reported worldwide, and the cases reported here are the 3rd and 4th cases associated with TOE1 variants reported in China (Chen et al, 2022; Wang et al, 2023). Whole‐exome sequencing (WES) identified a compound heterozygous variant in TOE1 that had not been previously reported, and this variant was inherited from their nonconsanguineous parents.…”

“…worldwide, and the cases reported here are the 3rd and 4th cases associated with TOE1 variants reported in China (Chen et al, 2022;Wang et al, 2023). Whole-exome sequencing (WES) identified a compound heterozygous variant in TOE1 that had not been previously reported, and this variant was inherited from their nonconsanguineous parents.…”

“…In 2023, the 2nd PCH 7 case reported from China was a 2‐year‐old boy with a 46 XY karyotype who exhibited severe intellectual and motor impairment. He was later identified to have PCH7, with a variant in the TOE1 gene (c.911C>T p.S304L, c.161C>T p.A54V in the exon area) (Wang et al, 2023). This case is notable because the boy was raised as a girl due to the presence of feminine genitalia, which underscores the importance of careful clinical evaluation and genetic testing in the diagnosis and management of this disorder.…”

The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation

“…Consistent with a commonality of function, USB1, PARN, and TOE1 are each connected to a specific human disease ( 32 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 ). For example, loss-of-function mutations in USB1 (USB1 mutants) lead to the genetic disorder Poikiloderma with Neutropenia (PN), an autosomal-recessive bone marrow failure (BMF) syndrome with marked clinical overlap with Dyskeratosis Congenita (DC) ( 49 ).…”

Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1

“…Currently, very few cases of PCH7 have been reported, with clinical phenotype being the significant difference. Only 16 cases of PCH 7 have been reported worldwide, with four found in China among two siblings from one family [ [18] , [19] , [20] ]. Here, we reported, we found the hydrocephalus, widened medullary cistern, cerebellar hypoplasia, and corpus callosum hypoplasia starting from the fetal period; as far as we know, this is the first case of PCH7 detected from the prenatal to postnatal stages.…”