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| Severe microcephaly v2.104 | PPP1R35 | Arina Puzriakova Classified gene: PPP1R35 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.104 | PPP1R35 | Arina Puzriakova Added comment: Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.104 | PPP1R35 | Arina Puzriakova Gene: ppp1r35 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.103 | PPP1R35 |
Arina Puzriakova gene: PPP1R35 was added gene: PPP1R35 was added to Severe microcephaly. Sources: Other watchlist tags were added to gene: PPP1R35. Mode of inheritance for gene: PPP1R35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPP1R35 were set to Primary microcephaly Added comment: Conference poster (Genomics of Rare Disease 2021) - 'Biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly' by Dawood et al, Baylor College of Medicine - Proband from a Turkish consanguineous family with primary microcephaly (-4.3 SD at birth, -6.1 SD by 42 months) and GDD. Brain imaging showed thinning of corpus collosum, mild cerebellar volume loss, increased extra-axial CSF spaces, pachygyria, dysmorphic ventricular system and delayed myelination of the internal capsule. Exome sequencing revealed a biallelic frameshifting indel in the PPP1R35 gene (c.753_*3delGGAAGCGTAGACCinsCG; p.Trp251Cysfs*22), resulting in deletion of the canonical stop codon in the last exon. Sequencing of unaffected parents and 2 unaffected sibs confirmed segregation with the phenotype. Droplet digital PCR demonstrated expression of mutant mRNA, with comparable gene expression levels observed for mutant and wild-type alleles in fibroblasts. Authors note a second Iranian consanguineous family in literature with two sibs with microcephaly and the same, p.Trp251Cysfs*22 variant - however, this paper could not be found in PubMed. Sources: Other |
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