Grazia Andolfi

TL;DR: A new gene on Xp22f MIDI (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families, suggests an important role for this gene in midline development.

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: Sequence homologies, expression pattern, and mapping information in both human and mouse make STK9 a candidate gene for the above-mentioned disorders.

TL;DR: Immunofluorescence studies revealed that AFG3L2 and paraplegin share a similar expression pattern and the same subcellular localization, the mitochondrial compartment, and may represent a candidate gene for other forms of HSPs and possibly for other neurodegenerative disorders.

TL;DR: It is confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual, and it is clear that laryngo‐tracheo‐esophageal (LTE) defects are also common anomalies, being manifested by all MID1‐mutated male patients.