Fig. 6
From: Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
Pedigree and molecular analysis and brain image work-up for patient K3 with creatinine cerebral deficiency. a A pedigree analysis shows that the genetic disease in the family of patient 2 is inherited in an X-linked recessive manner; b Sanger sequencing confirmed a hemizygous in-frame deletion variant, c.942_944del (p.F315del) (NM_005629.3), in SLC6A8 identified by targeted exome sequencing, shown in the red rectangular box; c MR spectroscopy reveals a diminished creatine signal peak, indicated by thick red arrows in both the parietal lobe and right temporal lobe at baseline. Concentration of N-acetyl aspartate (NAA) and cholines (Cho) were within normal ranges; d MR spectroscopy demonstrates an elevated creatine signal peak indicated by the thick red arrow in both the parietal lobe and right temporal lobe after 2.5Â years of oral treatment with creatine, arginine, and glycine supplementation