Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4

Gulcin Akinci, Haluk Topaloglu, Baris Akinci, Huseyin Onay, Cem Karadeniz, Yakup Ergul, Tevfik Demir, Emin Evren Ozcan, Canan Altay, Tahir Atik, Abhimanyu Garg

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance.

Original languageEnglish (US)
Pages (from-to)320-324
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume59
Issue number6-7
DOIs
StatePublished - Jun 1 2016

Fingerprint

Insulin Resistance
Congenital Generalized Lipodystrophy
Mutation
Implantable Defibrillators
Gastrointestinal Diseases
Anti-Arrhythmia Agents
Scoliosis
Muscular Diseases
Atrial Fibrillation
Lipodystrophy, Congenital Generalized, Type 4
Cardiac Arrhythmias
Therapeutics
Polymorphic catecholergic ventricular tachycardia

Keywords

  • Arrhythmia
  • Insulin resistance
  • Lipodystrophy
  • Myopathy
  • PTRF

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. / Akinci, Gulcin; Topaloglu, Haluk; Akinci, Baris; Onay, Huseyin; Karadeniz, Cem; Ergul, Yakup; Demir, Tevfik; Ozcan, Emin Evren; Altay, Canan; Atik, Tahir; Garg, Abhimanyu.

In: European Journal of Medical Genetics, Vol. 59, No. 6-7, 01.06.2016, p. 320-324.

Research output: Contribution to journalArticle

Akinci, G, Topaloglu, H, Akinci, B, Onay, H, Karadeniz, C, Ergul, Y, Demir, T, Ozcan, EE, Altay, C, Atik, T & Garg, A 2016, 'Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4', European Journal of Medical Genetics, vol. 59, no. 6-7, pp. 320-324. https://doi.org/10.1016/j.ejmg.2016.05.001
Akinci, Gulcin ; Topaloglu, Haluk ; Akinci, Baris ; Onay, Huseyin ; Karadeniz, Cem ; Ergul, Yakup ; Demir, Tevfik ; Ozcan, Emin Evren ; Altay, Canan ; Atik, Tahir ; Garg, Abhimanyu. / Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. In: European Journal of Medical Genetics. 2016 ; Vol. 59, No. 6-7. pp. 320-324.
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