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Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis
- Source :
- Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-9 (2021), Endocrinology, Diabetes & Metabolism Case Reports
- Publication Year :
- 2021
- Publisher :
- Bioscientifica, 2021.
-
Abstract
- Summary Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson–Gilford progeria syndrome, mandibuloacral dysplasia, atypical progeroid syndrome (APS) and generalized lipodystrophy-associated progeroid syndrome (GLPS). All of those syndromes are associated with some progeroid features, lipodystrophy and metabolic complications but vary differently depending on a particular mutation and even patients carrying the same gene variant are known to have clinical heterogeneity. We report a new 30-year-old female patient from Russia with an APS and generalized lipodystrophy (GL) due to the heterozygous de novo LMNA p.E262K mutation and compare her clinical and metabolic features to those of other described patients with APS. Despite many health issues, short stature, skeletal problems, GL and late diagnosis of APS, our patient seems to be relatively metabolically healthy for her age when compared to previously described patients with APS. Learning points Atypical progeroid syndromes (APS) are rare and heterogenic with different age of onset and degree of metabolic disorders, which makes this diagnosis very challenging for clinicians and may be missed until the adulthood. The clinical picture of the APS depends on a particular mutation in the LMNA gene, but may vary even between the patients with the same mutation. The APS due to a heterozygous LMNA p.E262K mutation, which we report in this patient, seems to have association with the generalized lipodystrophy, short stature and osteoporosis, but otherwise, it seems to cause relatively mild metabolic complications by the age of 30. The patients with APS and lipodystrophy syndromes require a personalized and multidisciplinary approach, and so they should be referred to highly specialized reference-centres for diagnostics and treatment as early as possible. Because of the high heterogeneity of such a rare disease as APS, every patient’s description is noteworthy for a better understanding of this challenging syndrome, including the analysis of genotype-phenotype correlations.
- Subjects :
- Adult
congenital, hereditary, and neonatal diseases and abnormalities
endocrine system
Endocrinology, Diabetes and Metabolism
General Practice
Cardiology
White
030209 endocrinology & metabolism
Dermatology
April
Gene mutation
Bioinformatics
Short stature
Progeroid syndromes
Diseases of the endocrine glands. Clinical endocrinology
LMNA
Genetics and Mutation
03 medical and health sciences
0302 clinical medicine
Russian Federation
Genetics
Internal Medicine
medicine
Bone
Progeria
integumentary system
business.industry
Generalized lipodystrophy
Gastroenterology
Heart
Paediatrics
Unique/Unexpected Symptoms or Presentations of a Disease
medicine.disease
RC648-665
Mandibuloacral dysplasia
Ophthalmology
Adipose Tissue
030220 oncology & carcinogenesis
Female
medicine.symptom
Lipodystrophy
business
Subjects
Details
- Language :
- English
- ISSN :
- 20520573
- Volume :
- 1
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Endocrinology, Diabetes & Metabolism Case Reports
- Accession number :
- edsair.doi.dedup.....449070aa6eabfa0b91865ceb14b06872