Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation

Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation Publisher Pubmed

Behnam M¹ ; Ghorbani F² ; Shin JH³ ; Kim DS³ ; Jang H³ ; Nouri N⁴ ; Sedghi M⁵ ; Salehi M⁶ ; Ansari B⁷ ; Basiri K⁷

Show Affiliations

1. Medical Genetics Laboratory of Genome, Isfahan, Iran
2. Isfahan University, Isfahan, Iran
3. Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, South Korea
4. Tohid Genetic Counseling Center, Isfahan, Iran
5. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
6. Division of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran
7. Neurology Department, Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Gene Published:2015

Abstract

Frontotemporal dementia is a neurodegenerative disorder among adults. An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21.2 (FTDP-17) was defined in 1996. The MAPT gene is responsible for the major cases of FTDP-17, and tau also has a role in Alzheimer's disease. So far, different FTDP-17 causing mutations have been identified in the MAPT gene. Among different MAPT mutations, the R406W mutation has been reported with a phenotype resembling Alzheimer's disease. Nonetheless, in this study we have identified the first homozygous case of R406W mutation in an Iranian family which shows characteristics of FTDP, just like the other heterozygous mutations of MAPT. This study clearly indicates that homozygous R406W mutation could result in FTDP phenotype. Our family confirms heterogeneity in the clinical phenotype of MAPT mutations; moreover, in the R406W mutation, a dosage effect is likely to contribute to this clinical heterogeneity. © 2015 Elsevier B.V..

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Style	Citing Format
MLA	Behnam M, et al.. "Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation." Gene, vol. 570, no. 1, 2015, pp. 150-152.
APA	Behnam M, Ghorbani F, Shin JH, Kim DS, Jang H, Nouri N, Sedghi M, Salehi M, Ansari B, Basiri K (2015). Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation. Gene, 570(1), 150-152.
Chicago	Behnam M, Ghorbani F, Shin JH, Kim DS, Jang H, Nouri N, Sedghi M, Salehi M, Ansari B, Basiri K. "Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation." Gene 570, no. 1 (2015): 150-152.
Harvard	Behnam M et al. (2015) 'Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation', Gene, 570(1), pp. 150-152.
Vancouver	Behnam M, Ghorbani F, Shin JH, Kim DS, Jang H, Nouri N, et al.. Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation. Gene. 2015;570(1):150-152.
BibTex	@article{ author = {Behnam M and Ghorbani F and Shin JH and Kim DS and Jang H and Nouri N and Sedghi M and Salehi M and Ansari B and Basiri K}, title = {Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation}, journal = {Gene}, volume = {570}, number = {1}, pages = {150-152}, year = {2015} }
RIS	TY - JOUR AU - Behnam M AU - Ghorbani F AU - Shin JH AU - Kim DS AU - Jang H AU - Nouri N AU - Sedghi M AU - Salehi M AU - Ansari B AU - Basiri K TI - Homozygous Mapt R406w Mutation Causing Ftdp Phenotype: A Unique Instance of a Unique Mutation JO - Gene VL - 570 IS - 1 SP - 150 EP - 152 PY - 2015 ER -

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