Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

Table 2 Summary of clinical and molecular findings in the mentioned families

Family Number		Mutation Position	Nucleotide change	Amino acid Change	Clinical findings
I	III:8	Exon 8	c.1232_1233delCT	S411 fs*541	Diabetes mellitus, bilateral optic atrophy, decreased vision, diabetes insipidus, hydronephrosis, atonic bladder, bilateral high-frequency sensorineural hearing loss
	III:9				Diabetes mellitus, decreased vision, bilateral optic atrophy, hydronephrosis, severe neurological problems
	IV:1				Hydroureteronephrosis, diabetes mellitus, vesicoureteral reflux, neuropathic bladder
II	III:7	Exon 8	c.2243-2244insC	T749Hfs*10	Diabetes mellitus, progressive visual loss, optic atrophy, bilateral hydronephrosis, neurogenic bladder
II	III:3 and III:5	Exon 8	c.2243-2244insC	T749Hfs*10	Diabetes mellitus, gradual loss of visual acuity, severe chronic kidney disease

ISSN: 1471-2350