Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome

Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome

Zaridoust A¹ ; Rabbani A² ; Hosseinverdi S³ ; Hilbert P⁴ ; Rezaei N^{3, 5, 6}

Show Affiliations

1. Department of Pediatrics, Guilan University of Medical Sciences, 17th Shahrivar Hospital, Rasht, Iran
2. Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
3. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Institut de Pathologie et de Genetique ASBL, Departement de Biologie Moleculaire, Gosselies, Belgium
5. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
6. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Acta Medica Iranica Published:2018

Abstract

Berardinelli-Seip congenital lipodystrophy (BSCL) is an autosomal recessive disorder, characterized by the generalized absence of subcutaneous fat and muscular hypertrophy. Meanwhile other signs and symptoms have already been reported with this genetic disorder. Herein, we report an infant with BSCL, who was referred to our center because of acromegaloid and muscular appearance from the age of three months. He had dark skin, hypertrichosis prominent subcutaneous vessels and organomegaly in physical examination. Genetic study showed novel homozygous mutations in the AGPAT2 gene, which confirmed diagnosis of BSCL in this patient. Although clinical suspicious could help us to make diagnosis of congenital disorders, definite diagnosis relies on genetic studies. © 2018 Tehran University of Medical Sciences. All rights reserved.

Style	Citing Format
MLA	Zaridoust A, et al.. "Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome." Acta Medica Iranica, vol. 56, no. 4, 2018, pp. 278-280.
APA	Zaridoust A, Rabbani A, Hosseinverdi S, Hilbert P, Rezaei N (2018). Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome. Acta Medica Iranica, 56(4), 278-280.
Chicago	Zaridoust A, Rabbani A, Hosseinverdi S, Hilbert P, Rezaei N. "Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome." Acta Medica Iranica 56, no. 4 (2018): 278-280.
Harvard	Zaridoust A et al. (2018) 'Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome', Acta Medica Iranica, 56(4), pp. 278-280.
Vancouver	Zaridoust A, Rabbani A, Hosseinverdi S, Hilbert P, Rezaei N. Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome. Acta Medica Iranica. 2018;56(4):278-280.
BibTex	@article{ author = {Zaridoust A and Rabbani A and Hosseinverdi S and Hilbert P and Rezaei N}, title = {Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome}, journal = {Acta Medica Iranica}, volume = {56}, number = {4}, pages = {278-280}, year = {2018} }
RIS	TY - JOUR AU - Zaridoust A AU - Rabbani A AU - Hosseinverdi S AU - Hilbert P AU - Rezaei N TI - Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome JO - Acta Medica Iranica VL - 56 IS - 4 SP - 278 EP - 280 PY - 2018 ER -

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