Maarit Peippo

TL;DR: The Pitt-Hopkins syndrome is established as a distinct but probably heterogeneous entity caused by autosomal dominant de novo mutations in TCF4, which impaired the interaction of TCF 4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct.

TL;DR: In this paper, the exomes of three individuals with Bohring-Opitz syndrome were sequenced and each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes.

TL;DR: The data indicate the following in WS: heart disease diagnosed in infancy frequently requires operation, PAS tends to improve and SVAS to progress, and life long cardiac follow up is necessary because of the risks of developing vasculopathy or arterial hypertension.

TL;DR: It is demonstrated that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggested that point mutations in HU WE1 are associated with this disease too, and segregating sequence changes of highly conserved residues in H UWE1 in three XLMR families; these changes are possibly associated with the phenotype.

TL;DR: Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects and indicates that structural eye anomalies such as microphthalmia should be considered as part of the MWS spectrum.