Manuela Priolo

TL;DR: A clinical-genetic classification of EDs is proposed, expanded to other entities in which no causative genes have been identified based on the phenotype, and possible candidate genes suggested by associated “non-ectodermal” features are speculated on.

TL;DR: A locus for infantile spasms is identified by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients and breakpoints delineate a 500 kb interval within the MAGI2 gene that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history.

TL;DR: This work reviews EDs in the light of the most recent molecular findings and proposes a new classification of EDs integrating both molecular‐genetic data and corresponding clinical findings of related diseases.

TL;DR: The orientation of RET on chromosome 10q11.2 made it possible to orientate three other genes rearranged with RET in papillary thyroid carcinomas, namely H4/D10S170 on 10q21, R1 alpha on 17q23 and RFG2/Ele1 on 10x10.2.

TL;DR: Comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation.