1. Name of the disease (synonyms):
There are four subclasses of Congenital Generalized Lipodystrophy (CGL), also named Berardinelli–Seip Congenital Lipodystrophy (BSCL):
Type 1 CGL (CGL1).
Type 2 CGL (CGL2).
Type 3 CGL (CGL3).
Type 4 CGL (CGL4).
2. OMIM# of the disease:
CGL1: #608594.
CGL2: #269700.
CGL3: #612526.
CGL4: #613327.
3. Name of the analysed genes or dna/chromosome segments:
CGL1: AGPAT2.
CGL2: BSCL2.
CGL3: CAV1.
CGL4: PTRF.
4. OMIM# of the gene(s):
AGPAT2: *603100.
BSCL2: *606158.
CAV1: *601047.
PTRF: *603198.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the four gene(s) in ⊠ diagnostic, □ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.
- Isabelle Jéru
- Camille Vatier
- Olivier Lascols
