Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Figure 1 Phenotypic features of JBS in our patient: abnormal hair pattern, nasal alae hypoplasia, small teeth and narrow upper lip (with permission from parents).

Figure 2 CT scan of the abdomen demonstrating fatty replacement of the pancreas (arrow).

Figure 3 Diagram of the UBR1 gene mutations in our patient and her parents. A: Exon 1-intron 1 transition showing a heterozygous nucleotide exchange at position +5 in the patient, IVS1+5G>C (c.81+G>C). Note the small peak in the father, indicating that he is mosaic for this mutation. B: Section of exon 17 showing a heterozygous 3 bp deletion in the patient and her mother, c.1978_1981delTTG (p.V660del), predicting the deletion of a highly conserved valine. In mRNA from lymphoblastoid cells from the patient the deletion is the predominant allele, indicating that mRNA from the allele with the splice site mutation is largely degradated.