Edition of 29 March 2019

Four individuals from three families presented complex syndromes that included microcephaly, developmental delay, and brittle hair and nails. They were affected by mutations in CARS, which encodes the enzyme cysteinyl-tRNA synthetase. The paper published in The American Journal of Human Genetics expands the locus and clinical heterogeneity of ARS-related clinical phenotypes.

A recent article published in Nature Medicine identified four individuals presenting a variant in SMARCB1 which encodes a subunit of the SWI/SNF complex involved in chromatin remodelling. They shared a distinct phenotype with profound intellectual disability and hydrocephalus due to choroid plexus hyperplasia. Other shared features included severe neonatal feeding difficulties, congenital heart, kidney, and eye anomalies, obstructive sleep apnoea, and anaemia.