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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

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Barraquer-Simons syndrome: a rare clinical entity.

Pelin Ozlem Simsek-Kiper¹, Emir Roach, Gulen Eda Utine

¹Pediatric Genetic Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

American Journal of Medical Genetics. Part A

|May 3, 2014

Summary

Barraquer-Simons syndrome involves gradual fat loss, sparing the lower body. This case study found no genetic mutations in known genes, suggesting unknown causes for this rare lipodystrophy.

Keywords:

Barraquer-Simons syndrome LMNB2 loss of subcutaneous fat tissue partial lipodystrophy

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Area of Science:

Genetics
Endocrinology
Rare Diseases

Background:

Barraquer-Simons syndrome, a rare partial lipodystrophy, presents with symmetrical fat loss.
Associated conditions include nephropathy, myopathy, and neurological disorders.
Genetic links, particularly to lamin B2 mutations, have been suggested.

Observation:

A young female patient with Barraquer-Simons syndrome was studied.
The patient exhibited typical fat loss but no renal or central nervous system involvement.
Comprehensive genetic sequencing was performed on multiple relevant genes.

Findings:

No heterozygous mutations were identified in LMNB2, LMNA, PPARG, AGPAT2, BSCL2, CAV1, PTRF, PLIN1, or CIDEC.
This case expands the understanding of genetic heterogeneity in Barraquer-Simons syndrome.

Implications:

The genetic basis of Barraquer-Simons syndrome may be more complex than previously understood.
Further research is needed to identify novel genes or factors involved in its pathogenesis.
This highlights the importance of considering non-genetic factors or unknown genetic contributors in rare lipodystrophies.