Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1

Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1 Publisher Pubmed

Youssefian L^{1, 2} ; Vahidnezhad H^{1, 2, 3} ; Daneshpazhooh M⁴ ; Abdollahzadeh S⁵ ; Talari H⁶ ; Khoshnevisan A⁵ ; Chamsdavatchi C⁴ ; Mobasher R⁴ ; Li Q² ; Uitto J² ; Akhondzadeh S⁷ ; Tabrizi M¹

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1. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
2. Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, United States
3. Molecular Medicine Division, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
4. Autoimmune Bullous Diseases Research Center, Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
5. Neurosurgery Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
6. Radiology Department and Anatomic Science Research Center, Kashan University of Medical Sciences, Kashan, Iran
7. Psychiatric Research Center, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: Experimental Dermatology Published:2015

Abstract

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the ECM1 gene, and previous studies have noted phenotypic variability. In this study, we examined 12 patients representing three Iranian families for clinical manifestations and genotyped them for mutations in ECM1. LP was diagnosed with characteristic mucocutaneous and neurologic manifestations. Five patients were also subjected to magnetic resonance imaging (MRI)/computed tomography (CT) scan of the central nervous system. DNA was isolated from peripheral blood from patients and their clinically unaffected relatives, and mutations in ECM1 were sought by PCR-based amplification of all exons and flanking intronic sequences, followed by bidirectional Sanger sequencing. Significant phenotypic variability in this multisystem disorder, including presence of convulsions and epilepsy in about half of the patients was noted. In most cases, this was associated with calcifications in the brain detected by MRI/CT scans. Genotyping of the affected individuals in three families from the central region of Iran revealed presence of homozygous c.507delT mutation in ECM1, reflecting the observed consanguinity in these families. This large cohort revealed extensive phenotypic variability in individuals with the same mutation in ECM1. This observation suggests a role for genetic and epigenetic as well as environmental modulation of the phenotype. Identification of mutations allows screening of unaffected individuals for presence or absence of this mutation in extended LP families, with implications for genetic counseling. © 2015 John Wiley & Sons A/S.

Style	Citing Format
MLA	Youssefian L, et al.. "Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1." Experimental Dermatology, vol. 24, no. 3, 2015, pp. 220-222.
APA	Youssefian L, Vahidnezhad H, Daneshpazhooh M, Abdollahzadeh S, Talari H, Khoshnevisan A, Chamsdavatchi C, Mobasher R, Li Q, Uitto J, Akhondzadeh S, Tabrizi M (2015). Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1. Experimental Dermatology, 24(3), 220-222.
Chicago	Youssefian L, Vahidnezhad H, Daneshpazhooh M, Abdollahzadeh S, Talari H, Khoshnevisan A, Chamsdavatchi C, et al.. "Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1." Experimental Dermatology 24, no. 3 (2015): 220-222.
Harvard	Youssefian L et al. (2015) 'Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1', Experimental Dermatology, 24(3), pp. 220-222.
Vancouver	Youssefian L, Vahidnezhad H, Daneshpazhooh M, Abdollahzadeh S, Talari H, Khoshnevisan A, et al.. Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1. Experimental Dermatology. 2015;24(3):220-222.
BibTex	@article{ author = {Youssefian L and Vahidnezhad H and Daneshpazhooh M and Abdollahzadeh S and Talari H and Khoshnevisan A and Chamsdavatchi C and Mobasher R and Li Q and Uitto J and Akhondzadeh S and Tabrizi M}, title = {Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1}, journal = {Experimental Dermatology}, volume = {24}, number = {3}, pages = {220-222}, year = {2015} }
RIS	TY - JOUR AU - Youssefian L AU - Vahidnezhad H AU - Daneshpazhooh M AU - Abdollahzadeh S AU - Talari H AU - Khoshnevisan A AU - Chamsdavatchi C AU - Mobasher R AU - Li Q AU - Uitto J AU - Akhondzadeh S AU - Tabrizi M TI - Lipoid Proteinosis: Phenotypic Heterogeneity in Iranian Families With C.507Delt Mutation in Ecm1 JO - Experimental Dermatology VL - 24 IS - 3 SP - 220 EP - 222 PY - 2015 ER -

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