The affected children in these families had homozygous DIAPH1 mutations F923fs/F923fs and R1049X/R1049X, respectively, and were diagnosed with postnatal microcephaly, early-onset epilepsy, severe visual impairment, and pulmonary symptoms including bronchiectasis and recurrent respiratory infections (4). The gene discussed is DIAPH1; the disease is bronchiectasis.