Steffen Lenzner

TL;DR: The data provide evidence that mutations in this gene, designated RP2, are responsible for progressive retinal degeneration and the predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of ß-tubulin folding.

TL;DR: The results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.

TL;DR: In this article, the PHD finger protein 8 (PHF8) was found to be associated with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263).

TL;DR: The mutation analysis revealed a high preponderance of mutations involving or creating cysteine residues, pointing to sites important for the tertiary folding and/or protein function, and highlights several amino acids which may be involved in XLRS1-specific protein-protein interactions.

TL;DR: A large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene broadens the phenotypic spectrum of OfD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms.