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Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up

  • Nhung Phuong Vu , Hai Thi Tran , Nga Bich Vu , Thuong Thi Huyen Ma , Ton Dang Nguyen , Hai Van Nong and Ha Hai Nguyen EMAIL logo
Published/Copyright: July 11, 2022
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 35 Issue 9

Abstract

Objectives

Familial partial lipodystrophy type 2 is the most well-known subtype of lipodystrophy. We describe for the first time the phenotype of a case with lipodystrophy, who carried heterozygous mutation c.G1394A (p.G465D) in the LMNA gene.

Case presentation

A 17-year-old girl was diagnosed with FPLD2 due to severe loss of subcutaneous fat in the extremities, buttocks and metabolic complications. However, there was no accumulation of fat over her face and neck, which is remarkably different from the FPLD2 clinical phenotypes. Two years of surveillance showed the challenge due to unable control of insulin resistance, glucose and lipid metabolism. Whole exome sequencing revealed the heterozygous mutation c.1394G>A at exon 11 of LMNA gene (p.G465D).

Conclusions

Our case displayed an atypical phenotype of FPLD2 with metabolic anomalies, not cardiovascular diseases. The difficulties of medical management in this case pointed out the urgent need for more effective treatment for individuals suffering from this rare disease.

Keywords: familial partial lipodystrophy; LMNA ; whole exome sequencing
Corresponding author: Ha Hai Nguyen, Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet Str., Cau Giay, Hanoi, Vietnam, E-mail:
Nhung Phuong Vu and Hai Thi Tran contributed equally to this work.

Funding source: Vietnam Academy of Science and Technology

Award Identifier / Grant number: VAST02.01/19-20

  1. Research funding: This work was partially supported by Vietnam Academy of Science and Technology (Grant No: VAST02.01/19-20).

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from the patient in this study.

  5. Ethical approval: All procedures in this study were performed in accordance with ethical standards by ethics committees of the Institute of Genome Research, Vietnam Academy of Science and Technology.

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2022-0208).

Received: 2022-04-14
Accepted: 2022-06-15
Published Online: 2022-07-11
Published in Print: 2022-09-27

© 2022 Walter de Gruyter GmbH, Berlin/Boston

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  16. Craniosynostosis in a patient with Fanconi–Bickel syndrome: a case report
  17. Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up
  18. The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 – case report
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https://doi.org/10.1515/jpem-2022-0208
Keywords for this article
familial partial lipodystrophy; LMNA; whole exome sequencing

Articles in the same Issue

  1. Frontmatter
  2. Review Article
  3. Effects and dose-response relationships of exercise intervention on weight loss in overweight and obese children: a meta-regression and system review
  4. Original Articles
  5. Diabetic ketoacidosis in children with new-onset type 1 diabetes mellitus: demographics, risk factors and outcome: an 11 year review in Hong Kong
  6. Incidence tendency, etiological classification and outcome of congenital hypothyroidism in Guangzhou, China: an 11-year retrospective population-based study
  7. Metabolically healthy obesity in a paediatric obesity clinic
  8. Universal salt iodization potentially contributes to health equity: socio-economic status of children does not affect iodine status
  9. Association between clinical variations and copy number variations in cases with Turner syndrome
  10. The mediating function of obesity on endocrine-disrupting chemicals and insulin resistance in children
  11. Relationship between prolactin level and puberty in girls with early breast development
  12. Pattern of presentation of paediatric endocrine disorders in a Nigerian tertiary institution: an 11-year survey
  13. Case Reports
  14. Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita
  15. Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy
  16. Craniosynostosis in a patient with Fanconi–Bickel syndrome: a case report
  17. Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up
  18. The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 – case report
  19. Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family
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