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Fig. 2 | BMC Endocrine Disorders

Fig. 2

From: A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

Fig. 2

PCR-direct sequencing of WFS1 and the pedigree of the patient’s family. a Sequence chromatograms of WFS1 exon 8 in the patient and his families. Reverse sequencing of WFS1 exon 8 in the patient indicated the presence of heterozygous 10-bp deletion mutation. Arrow indicates the deletion site. Double bands appear after the deletion site. This deletion resulted in a frame shift mutation starting at codon 690, and a terminator (UGA) was generated at position 706. b The heterozygous 10-bp deletion in exon 8 was also found in the patient’s mother. Forward sequencing of WFS1 exon 8 revealed that his father, sister and brother did not have this mutation. c The pedigree of the patient’s family. The first line below each symbol represents generation and identification number. -, absence of WFS1 mutation; +, presence of WFS1 mutation

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