Erratum: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

RSS patients share many clinical features with patients with CCDC22 mutations.

“RSS patients share many clinical features with patients with CCDC22 mutations, described thus far1831.”

Evidence that endosomal LDLR recycling may also be relevant in humans was so far restricted to rare loss-of-function mutations in CCDC22 and WASHC5, which cause hypercholesterolaemia but also developmental defects and intellectual disability.

“Evidence that the endosomal LDLR recycling may also be relevant in humans was so far restricted to rare loss-of-function mutations in CCDC22 and WASHC5, which cause hypercholesterolaemia but also developmental defects and intellectual disability.13,35,36”

Mutations in Commander lead to hypercholesterolemia through reduced trafficking of LDLRs.

“Mutations in Commander lead to hypercholesterolemia through reduced trafficking of LDLRs.7,8,9,10,12,13,14”

Mutations in Commander subunits are causative for X-linked intellectual disability (XLID) and Ritscher-Schinzel syndrome (RSS).

“mutations in its subunits are causative for X-linked intellectual disability (XLID) and Ritscher-Schinzel syndrome (RSS), a multi-system developmental disorder characterised by abnormal craniofacial features, cerebellar hypoplasia, and stunted cardiovascular development.7,8,9,10,11,12,13,14”

Mapping mutations causative for XLID and RSS onto the Commander model reveals clustering of VPS35L and CCDC22 pathogenic mutations around the interface between Retriever and CCC complexes.

“Finally, we mapped mutations causative for XLID and RSS7,8,9,10,11,12 onto the Commander model (Figure 7A). This reveals clustering of VPS35L and CCDC22 pathogenic mutations around the interface between Retriever and CCC complexes”

This clustering provides insight into the destabilization of protein expression observed in patients harboring these mutations.

“providing insight into the destabilization of protein expression observed in patients harboring these mutations.8,9,11,12”

The structure of the Commander complex has allowed us to map the locations of causative mutations for XLID and RSS.

“The structure of the Commander complex has allowed us to map the locations of causative mutations for XLID and RSS.7,8,9,10,11,12,13,14”

Mutations in WASHC5, CCDC22, and VPS35L result in 3C/Ritscher-Schinzel syndrome.

“Over the past decade, mutations in additional genes, CCDC22 and VPS35L, that also result in 3 C/Ritscher-Schinzel syndrome have been reported [3–7].”