A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the gene.

The monoamine neurotransmitter disorders are neurometabolic syndromes caused by disturbances in the synthesis, transport and metabolism of the biogenic amines (the catecholamines dopamine, norepinephrine and epinephrine; serotonin), which are increasingly recognized as an expanding group of inherited neurometabolic syndromes. A 6-month-old male infant who presented with developmental delay and suspected cerebral palsy was diagnosed with infantile parkinsonism-dystonia-2 (MIM: 618049). The whole-exome sequencing identified a homozygous c.

DGCR8 expression is altered in children with congenital heart defects.

Aim: To explore the correlation of DGCR8 expression in children with congenital heart defects (CHD) and its clinical significance.

Methods: Full blood samples were collected from children with congenital heart disease(n = 40) and healthy children(n = 40), respectively.Real-time PCR was used to detect the expression of DGCR8 in the blood of healthy children and CHD.