Fig. 1
From: A novel variant in NSUN2 causes intellectual disability in a Chinese family
Clinical and genetic features. A Distribution of all NSUN2 pathogenic variants. All 17 reported variants are shown (bold = previously reported; # = recurrent variant). B Family pedigree shows two affected offspring from nonconsanguineous parents. C Facial appearance of patient 1 (II-1) at 9 years old, showing upper eyelid ptosisptosis, long palpebral, fissures high posterior hairline and smooth philtrum. D Facial appearance of patient 2 (II-2) at 6 years old, showing long face, long palpebral fissures, high posterior hairline and long philtrum. E Axial slices of T1weighted images (T1WI) and T2WI, acquired at 5 years in patient 2, showing hypomyelination. F DNA sequence chromatograms from Sanger sequencing of NSUN2, showing a homozygous frameshift mutation c.1171_1175delACCAT(p.Thr391fs*18) in the proband. Sanger sequencing further revealed that his affected brother was homozygous for the same mutation and that his parents were heterozygous