Abstract
RATIONALE: Congenital malformations are commonly associated with genetic disorders in infants and children. PATIENT CONCERNS: A 13-day-old male infant was admitted to our hospital presenting with aggravated dyspnea and characteristic facial and body features. Examinations during hospitalization found congenital bronchomalacia and heart defects including atrial septal defect, patent ductus arteriosus, and pulmonary hypertension, congenital laryngeal stridor, and tracheal stenosis. DIAGNOSIS: Considering complicated clinical manifestations, the Trio Whole Exon Sequencing test was run to screen for any hereditary diseases and found a heterozygous pathogenic mutation in SET domain containing 1A (SETD1A) gene (c.2096T > A; p. Leu699Ter, 1099), which was a de novo mutation. INTERVENTION: The patient was given amoxicillin clavulanate potassium for antibiotic, fibro bronchoscope lavage and other symptomatic support therapy, and referred to the department of Cardiac Surgery for arterial catheter ligation. OUTCOMES: The patient was discharged after postoperative recovery without shunt. In the following 2 years, he was admitted to hospital multiple times during to infectious pneumonia. LESSONS: SETD1A gene mutation is commonly associated with neuropsychiatric disorders. This is the first reported case with a novel mutation of SETD1A gene along with new associated phenotypes. Our results broaden the genotypic and phenotypes spectrum of SETD1A gene mutation in infant patients.