Correction: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction

Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6 -Associated Syndrome

“…The human ACBD6 (282 amino acids) consists of the acyl-CoA binding domain (amino acids 1–129), the linker (amino acids 130–178), and the 2 ankyrin-repeat motifs (amino acids 177–282). 6 This frameshift precludes the generation of all functional domains. Nonetheless, it is likely to lead to nonsense mRNA mediated decay.…”

“…Consequently, loss-of-function mutations in ACBD6 lead to the N-myristoylation deficiency. 6 The variant is absent in publicly available databases including National Heart, Lung, and Blood Institute 7 , gnomAD 8 , ClinVar 9 , and Thai reference exome (T-REx) variant database.…”

“…From the previously reported cases of ACBD6 mutations, 3 , 4 , 6 only neurologic symptoms and craniofacial features were described. Notably, our report describes clinical features of patients with ACBD6 mutations in more details and up to their deaths in their 30s.…”

“…Consequently, loss-of-function mutations in ACBD6 lead to the N-myristoylation deficiency. 6 The variant is absent in publicly available databases including National Heart, (A and B) CT scan of the brain shows diffuse brain atrophy, disproportionate with the patient's age. There is the diffuse and thickened cranial vault.…”

“…Variants in the ACBD6 gene have been previously reported in 7 patients with NDDs without the details of their phenotype. 3 , 4 , 6 Here, we report 2 Thai siblings who harbor a novel homozygous pathogenic variant c.360dup (p.Leu121Thrfs*27) in ACBD6 . Their clinical and radiologic features are described.…”