Edition of 31 October 2018

The results of a collaboration between researchers from the University of Ottawa and from the University of New Mexico School of Medicine were recently published in Clinical Genetics. The authors identified a novel autosomal recessive disorder characterised by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global development delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus and genital hypoplasia, and linked to an homozygous missense mutation in ZPR1.

An X-linked syndrome caused by de novo mutations in MSL3, encoding a membre of the chromatin-associated male-specific lethal complex, was recently described in Nature Genetics. Clinical features of the syndrome include global developmental, progressive gait disturbance, and recognisable face dysmorphism.