Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
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Xueying Su
and
Xiuzhen Li
Abstract
Objectives
Congenital generalized lipodystrophy (CGL) is a group of rare autosomal inherited diseases characterized by a widespread loss of adipose tissue. The main purpose of this study was to evaluate the features of Chinese patients with CGL2.
Methods
Three patients diagnosed with CGL2 from our center were reviewed. Data on clinical features, results of laboratory analyses, and previous treatments were retrospectively collected. This study also reviewed studies that reported patients diagnosed with CGL2 in the last 30 years.
Results
All patients presented a lack of subcutaneous fat, hypertriglyceridemia, reversed triangular faces, acanthosis nigricans, and hepatomegaly within the first six months of life. All three patients developed splenomegaly, and mental retardation in later life. Dietary control dramatically lowered triglyceride levels in all patients. One patient presented with diabetes mellitus at 1 year-old. Although combined therapy with low fat diet and metformin maintained normal levels of blood lipid and glucose, this patient developed hypertrophic cardiomyopathy at the age of three. By a literature review on all Chinese cases with CGL2, it is known that classic manifestations such as hypertriglyceridemia, hepatomegaly and diabetes mellitus can occur shortly after birth, and early diagnosis and treatment can improve quality of life. In this cohort, the most frequent variations are c.782dupG and c.974dup in the BSCL2 gene. However, the same genotype may have different clinical phenotypes in patients with CGL2.
Conclusions
This study not only described the clinical and genetic features of three patients with CGL2 in China, but also reviewed literature about CGL2 around the world.
Funding source: National Natural Science Foundation of China
Award Identifier / Grant number: 81700687
Acknowledgments
We thank all the patients and their families for their contribution to this study.
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Research funding: This work was supported by the National Natural Science Foundation of China [grant number 81700687].
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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© 2022 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Editorial
- Disorders of sex development – biologic, genetic, cultural, societal, and psychologic diversity of the human nature
- Review
- Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement
- Original Articles
- Penile diameter during puberty in boys: a retrospective analysis of longitudinally obtained data
- Evaluation of bladder dysfunction in children and adolescents with type 1 diabetes mellitus by uroflowmetry
- All aspects of galactosemia: a single center experience
- The evolution of pituitary cysts in growth hormone-treated children
- Phototherapy-induced hypocalcemia and hypoparathyroidism in icteric term newborns
- Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience
- Does cystatin C have an immunomodulatory role in Hashimoto’s thyroiditis?
- Molecular genetic etiology by whole exome sequence analysis in cases with familial type 1 diabetes mellitus without HLA haplotype predisposition or incomplete predisposition
- Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
- Case Reports
- Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
- The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
- Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report
- Human chorionic gonadotrophin secreting adrenocortical neoplasm presenting with peripheral precocious puberty in an infant
- Atypical familial diabetes associated with a novel NEUROD1 nonsense variant
Articles in the same Issue
- Frontmatter
- Editorial
- Disorders of sex development – biologic, genetic, cultural, societal, and psychologic diversity of the human nature
- Review
- Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement
- Original Articles
- Penile diameter during puberty in boys: a retrospective analysis of longitudinally obtained data
- Evaluation of bladder dysfunction in children and adolescents with type 1 diabetes mellitus by uroflowmetry
- All aspects of galactosemia: a single center experience
- The evolution of pituitary cysts in growth hormone-treated children
- Phototherapy-induced hypocalcemia and hypoparathyroidism in icteric term newborns
- Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience
- Does cystatin C have an immunomodulatory role in Hashimoto’s thyroiditis?
- Molecular genetic etiology by whole exome sequence analysis in cases with familial type 1 diabetes mellitus without HLA haplotype predisposition or incomplete predisposition
- Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
- Case Reports
- Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
- The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
- Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report
- Human chorionic gonadotrophin secreting adrenocortical neoplasm presenting with peripheral precocious puberty in an infant
- Atypical familial diabetes associated with a novel NEUROD1 nonsense variant
