Novel Homozygous Mutation in the AGPAT2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome

  • Ahya Zaridoust Department of Pediatrics, 17th Shahrivar Hospital, Guilan University of Medical Sciences, Rasht, Iran.
  • Ali Rabbani Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Sima Hosseinverdi Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Pascale Hilbert Institut de Pathologie et de Génétique ASBL, Département de Biologie Moléculaire, Gosselies, Belgium.
  • Nima Rezaei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Keywords: Berardinelli-Seip syndrome, Congenital lipodystrophy

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.

 

References

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Published
2018-04-09
How to Cite
1.
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 Med Iran. 56(4):278-280.
Section
Case Report(s)