Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

B. Friguls; W. Coroleu; R. del Alcazar; P. Hilbert; L. Van Maldergem; G. Pintos-Morell

doi:10.1016/j.ejmg.2008.10.006

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

B. Friguls, W. Coroleu, R. del Alcazar, P. Hilbert, L. Van Maldergem, G. Pintos-Morell

Department of Paediatrics, Obstetrics and Gynaecology and Preventive Medicine and Public Health

Research output: Contribution to journal › Article › Research › peer-review

21 Citations (Scopus)

Abstract

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a 4-month-old Chinese male infant who presented with a severe BSCL "cardiac" phenotype comprising heart failure, hypertension and hypertrophic cardiomyopathy. © 2008 Elsevier Masson SAS. All rights reserved.

Original language	English
Pages (from-to)	14-16
Journal	European Journal of Medical Genetics
Volume	52
Issue number	1
DOIs	https://doi.org/10.1016/j.ejmg.2008.10.006
Publication status	Published - 1 Jan 2009

Keywords

Berardinelli-Seip congenital lipodystrophy
Hypertrophic cardiomyopathy
Insulin resistance
Leptin

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title = "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation",

abstract = "Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a 4-month-old Chinese male infant who presented with a severe BSCL {"}cardiac{"} phenotype comprising heart failure, hypertension and hypertrophic cardiomyopathy. {\textcopyright} 2008 Elsevier Masson SAS. All rights reserved.",

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Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. / Friguls, B.; Coroleu, W.; del Alcazar, R.; Hilbert, P.; Van Maldergem, L.; Pintos-Morell, G.

In: European Journal of Medical Genetics, Vol. 52, No. 1, 01.01.2009, p. 14-16.

Research output: Contribution to journal › Article › Research › peer-review

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T1 - Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

AU - Friguls, B.

AU - Coroleu, W.

AU - del Alcazar, R.

AU - Hilbert, P.

AU - Van Maldergem, L.

AU - Pintos-Morell, G.

PY - 2009/1/1

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AB - Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a 4-month-old Chinese male infant who presented with a severe BSCL "cardiac" phenotype comprising heart failure, hypertension and hypertrophic cardiomyopathy. © 2008 Elsevier Masson SAS. All rights reserved.

KW - Berardinelli-Seip congenital lipodystrophy

KW - Hypertrophic cardiomyopathy

KW - Insulin resistance

KW - Leptin

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