The authors reported twins, both of whom had a 1q21.3 microdeletion and exhibited features such as intellectual disability, developmental delay, seizures, and some dysmorphic features. The deleted region included DPM3, MUC1, GBA, PKLR, RIT1, and LAMTOR2 in both siblings. This seems to be the second report of a 1q21.3 microdeletion in a family.
In a first study, the authors presented seven individuals with TRIP12 mutations. They presented with mild to moderate intellectual disability, autism spectrum disorder and some of them with unspecific craniofacial dysmorphism and other anomalies.
In a second study, the authors identified mutations in TRIP12 in nine individuals who shared clinical features such as intellectual disability with or without autistic spectrum disorders, speech delay, and facial dysmorphism.
The authors reported on two new syndromes and a new gene involved in paediatric cataract. The first novel syndrome was characterised by cataract and cholestatic liver disease and was caused by biallelic mutations in CYP51A1. The second syndrome presented cataract, brain atrophy, and microcephaly with or without cleft palate. It was associated with a mutation in RIC1. Finally, the new gene TAPT1 was identified as linked to non-syndromic paediatric cataract.
The authors described a pedigree affected by a severe combined immunodeficiency phenotype with absent T cells and normal B-cell and natural killer cell numbers. A novel homozygous frameshift mutation in the LAT gene was identified in this kindred.
The authors described a new entity characterised by recurrent flares of induration of the forearms and legs with swelling of the extremities accompanied by intense fatigue and variable other symptoms. Six males presented with painful induration or muscle soreness of the forearms and the legs associated with transient functional impairment and prolonged asthenia for a mean duration of 3.5 days. Induration of the deep soft tissues was very suggestive of myofasciitis. The delay between the triggering physical effort and the swelling was between 6 and 12 hours. Physical effort as triggering factor was never spontaneously mentioned. Two patients had partial response to high dose antihistamines and 2 other patients to the interleukin-1 inhibitor anakinra. One patient responded to hydroxychloroquine. The authors suggested to name this entity ‘Delayed effort-induced swelling with myofasciitis and systemic manifestations’.
Three new and ten updated GeneReviews published
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 counseling of patients and families with specific inherited conditions. Three new GeneReviews have been published for:
Ten updated GeneReviews have been published for:
These guidelines have been supported by Sanofi Genzyme. To find further information on the use of eliglustat, consult the summary of product characteristics from the EMA.