title: Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report.
abstract: A 12‑year‑old Chinese girl presented with gradual vision loss and insulin‑dependent             diabetes mellitus and was suspected to suffer from Wolfram syndrome (WFS). A series             of clinical examinations were performed, as well as direct DNA sequencing to screen             the entire coding region of the WFS1 gene in the patient's family, including her             parents and a brother. Ophthalmological examination revealed counting fingers/10 cm             in the right eye and hand motions/10 cm in the left eye. Ophthalmoscopical examination             identified bilateral optic atrophy without any signs of diabetic retinopathy.             A hearing test was performed and revealed that the hearing ability for high frequency             sounds was decreased. Urinary output in 24 h was >5,000 ml. In addition, a             base substitution at c.2411T>C (Leu804Pro) in exon 8 was identified which was             homozygous with the patient and heterozygous with the healthy parents and the             brother. In the present case, a neuroophthalmology consult performed in the early             stages of the disease was crucial for early diagnosis. In addition, this case             study highlights the importance of performing a hearing test as well as collecting             and analyzing 24‑h urine output in patients presenting with juvenile diabetes             mellitus patients and optic atrophy without any signs of diabetic retinopathy.
authors: Department of Ophthalmology, PLA General Hospital, Beijing 100853, PR China.
authors: Qianqian
authors: Q
authors: Xu
authors: Huaiyu
authors: H
authors: Qu
authors: Shihui
authors: S
authors: Wei
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000175:diagnosis; D003930:Diabetic Retinopathy / Q000150:complications / Q000175:diagnosis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014929:Wolfram Syndrome / Q000150:complications / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein