The authors presented eight patients with de novo, deleterious sequence variants in the PBX1 gene. All patients but one had developmental delays. The authors concluded that deleterious sequence variants in PBX1 cause intellectual disability and pleiotropic malformations.
The authors reported five individuals with loss-of-function of the X-linked AMMECR1 gene. They presented a new syndrome with short stature, bone, heart, and kidney alterations with or without elliptocytosis, as well as hearing loss.
The authors identified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mutation in TMEM106B. The mutation was confirmed as de novo in three of the cases, and the mildly affected father of the fourth affected individual was confirmed as a mosaic for this variant.
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardised format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counselling of patients and families with specific inherited conditions.
Three new GeneReviews have been published for:
One updated GeneReviews has been published for: