A sibling case of Wolfram syndrome with a novel mutation Y652X in WFS1
详细信息 查看全文
- 作者：Naoko Iwasaki (1) (2) (3)
Kaori Fukawa (4)
Mari Matsuo (2)
Mari Urano (2)
Motoko Watanabe (2)
Yuko Ono (5)
Katsuya Tanabe (6)
Yukio Tanizawa (6)
Makiko Ogata (1)
Risa Ide (1)
Miho Takizawa (1)
Satoru Nagata (4)
Makiko Osawa (4)
Yasuko Uchigata (1)
Kayoko Saito (2) (3) (4) - 关键词：Wolfram syndrome (WS) ; Diabetes insipidus ; Diabetes mellitus ; Optic atrophy and deafness syndrome (DIDMOAD) ; Wolfram syndrome 1 (WFS1) ; Attention deficit hyperactivity disorder (ADHD)
- 刊名：Diabetology International
- 出版年：2014
- 出版时间：June 2014
- 年：2014
- 卷：5
- 期：2
- 页码：148-153
- 全文大小：
- 参考文献：1. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;349:1458-3. CrossRef
2. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marchall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet. 1998;20:143-. CrossRef
3. Amr S, Heisey C, Zhang M, Xia J, Shows H, Ajlouni K, Pandya A, Satin S, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007;81:673-3. CrossRef
4. Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Clin Genet. 2011;79:103-7. CrossRef
5. Osman A, Saito M, Makepeace C, Permutt A, Schlesinger P, Mueckle M. Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. J Biol Chem. 2003;278:52755-2. CrossRef
6. Fonseca G, Fukuma M, Lipson L, Nguyen X, Allen R, Oka Y, Urano F. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells. J Biol Chem. 2005;280:39609-5. CrossRef
7. Fonseca G, Ishigaki S, Oslowski M, Lu S, Lipson K, Ghosh R, Hayashi E, Ishihara H, Oka Y, Permut M, Urano F. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J Clin Invest. 2010;120:744-5. CrossRef
8. Hershey T, Lugar H, Shimony J, Rutlin J, Koller J, Perantie D, Paciorkowski A, Eisenstein S, Pemutt A, Washington University Wolfram Study Group. Early brain vulnerability in Wolfram syndrome. PLoS One. 2012;7:e440604. CrossRef
9. Hoffmann S, Philbrook C, Gerbitz D, Bauer F. Wolfram syndrome: structural and functional analysis analyses of mutant and wild-type Wolframin. Hum Mol Genet. 2003;12:2003-2. CrossRef
10. Wu J, Kaufman J. From acute ER stress to physiological roles of the unfolded protein response. Cell Death Differ. 2006;13:374-4. CrossRef
11. Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, Kirk J, Polymeropoulos M, Latif F, Barrett T. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in / WFS1. Am J Hum Genet. 1999;65:1279-0. CrossRef
12. Swift RG, Sadler DB, Swift M. Psychiatric findings in Wolfram syndrome homozygotes. Lancet. 1990;336:667-. CrossRef
13. Sequeira A, Kim C, Seguin M, Lesage A, Chawky N, Desautels A, Tousignant M, Vanier C, Lipp O, Benkelfat C, Rouleau G, Turecki G. Wolfram syndrome and suicide: evidence for a role of WFS1 in suicidal and impulsive behavior. Am J Med Genet B Neuropsychiatr Genet. 2003;119B:108-3. CrossRef
14. Rohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Meissner T, Burger W, Schober E, Huebner A, Lee-Kirsch MA, The Wolfram Syndrome Diabetes Writing Group. Diabetes and neurodegeneration in Wolfram syndrome. A multicenter study of phenotype and genotype. Diabetes Care. 2011;34:1503-0. CrossRef
15. Kandel ER. Disorder of mood: depression, mania, and anxiety disorders. In: Kandel ER, Schwartz JH, Jessell TM, editors. Principles of neural science. 4th ed. New York: McGraw-Hill; 2000. p. 1209-6.
16. Vorstman JAS, Ophoff RA. Genetic causes of developmental disorders. Curr Opin Neurol. 2013;. doi:10.1097/WCO.0b013e32835f1a30 . - 作者单位：Naoko Iwasaki (1) (2) (3)
Kaori Fukawa (4)
Mari Matsuo (2)
Mari Urano (2)
Motoko Watanabe (2)
Yuko Ono (5)
Katsuya Tanabe (6)
Yukio Tanizawa (6)
Makiko Ogata (1)
Risa Ide (1)
Miho Takizawa (1)
Satoru Nagata (4)
Makiko Osawa (4)
Yasuko Uchigata (1)
Kayoko Saito (2) (3) (4)
1. Diabetes Center, Tokyo Women’s Medical University, Tokyo, Japan
2. Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan
3. Institute of Integrated Medical Science, Tokyo Women’s Medical University, Tokyo, Japan
4. Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan
5. Department of Diagnostic Imaging and Nuclear Medicine, Tokyo Women’s Medical University, Tokyo, Japan
6. Third Department of Internal Medicine, School of Medicine, Yamaguchi University, Ube, Japan - ISSN：2190-1686
文摘
We report on two Japanese siblings with Wolfram syndrome (WS) who were identified as carrying a novel mutation in Wolfram syndrome 1 (WFS1). The homozygous mutation, Y652X in exon 8, has not been reported in WS or low-frequency sensorineural hearing loss previously. The substitution is located at the beginning of the C-terminus of the protein, which is typically localized to the lumen of the endoplasmic reticulum (ER). This mutation predicts a truncated protein of 651 aa, with deletion of the entire C-terminal peptide, and was suggested to cause a severe phenotype. They developed a typical presentation, including symptoms such as deafness, diabetes insipidus, and visual disturbances at younger ages compared to those reported in the review. Moreover, they were also diagnosed with attention deficit hyperactivity disorder (ADHD), a neuropsychiatric disorder that manifests in early childhood as a deviation from normal development at the ages of 3 and 5?years. WS is known to be associated with neurological and psychiatric disorders, such as severe depression. However, co-occurrence of ADHD and WS has not been found in the literature; these cases were also interesting in this aspect.