Biallelic ATAD1 mutations lead to neonatal stiffness, hypotonia and respiratory distress

Takeaway

  • Individuals with biallelic ATAD1 variants show a distinctive phenotype consisting of neonatal onset stiffness, weak sucking, hypoventilation and absent brain stem evoked auditory responses (BEARs).

Why this matters

    The findings provide common characteristics to look out for in order to seek an early genetic diagnosis and begin therapeutic strategies.