Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene

Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene Publisher Pubmed

Vahidnezhad H^{1, 2, 3} ; Ziaee V^{4, 5} ; Youssefian L^{2, 3} ; Li Q³ ; Sotoudeh S⁶ ; Uitto J³

Show Affiliations

1. Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran
2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. Tenth Street, Philadelphia, 19107, PA, United States
4. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
5. Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
6. Department of Dermatology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Clinical and Experimental Dermatology Published:2015

Abstract

Infantile systemic hyalinosis (ISH) is an extremely rare genodermatosis, characterized by thickened skin, joint contractures and subcutaneous nodules. ISH is caused by mutations in the CMG2 gene, which encodes a protein of unknown function. In this report, we describe a patient with ISH, who was a twin born to a consanguineous Iranian couple, and who demonstrated unusual skin findings in addition to the characteristic features of ISH. Mutation analysis disclosed a homozygous deletion mutation, c.1074delT in CMG2, resulting in a frameshift and premature termination codon 50 amino acids downstream of the deletion. This information adds to the recurring nature of this mutation in ISH, with implications for genetic counselling in extended families with a history of this disease. © 2015 British Association of Dermatologists.

2. The Genetic Basis of Hyaline Fibromatosis Syndrome in Patients From a Consanguineous Background: A Case Series, BMC Medical Genetics (2018)

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Vahid Ziaee (2)

Style	Citing Format
MLA	Vahidnezhad H, et al.. "Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene." Clinical and Experimental Dermatology, vol. 40, no. 6, 2015, pp. 636-639.
APA	Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J (2015). Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene. Clinical and Experimental Dermatology, 40(6), 636-639.
Chicago	Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J. "Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene." Clinical and Experimental Dermatology 40, no. 6 (2015): 636-639.
Harvard	Vahidnezhad H et al. (2015) 'Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene', Clinical and Experimental Dermatology, 40(6), pp. 636-639.
Vancouver	Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J. Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene. Clinical and Experimental Dermatology. 2015;40(6):636-639.
BibTex	@article{ author = {Vahidnezhad H and Ziaee V and Youssefian L and Li Q and Sotoudeh S and Uitto J}, title = {Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene}, journal = {Clinical and Experimental Dermatology}, volume = {40}, number = {6}, pages = {636-639}, year = {2015} }
RIS	TY - JOUR AU - Vahidnezhad H AU - Ziaee V AU - Youssefian L AU - Li Q AU - Sotoudeh S AU - Uitto J TI - Infantile Systemic Hyalinosis in an Iranian Family With a Mutation in the Cmg2/Antxr2 Gene JO - Clinical and Experimental Dermatology VL - 40 IS - 6 SP - 636 EP - 639 PY - 2015 ER -

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