NM_022094.3(CIDEC):c.556G>T (p.Glu186Ter) AND Lipodystrophy, familial partial, type 5

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000043528.2

Allele description [Variation Report for NM_022094.3(CIDEC):c.556G>T (p.Glu186Ter)]

NM_022094.3(CIDEC):c.556G>T (p.Glu186Ter)

Gene:
CIDEC:cell death-inducing DFFA-like effector c [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_022094.3(CIDEC):c.556G>T (p.Glu186Ter)
HGVS:
  • NC_000003.12:g.9867295C>A
  • NG_042291.1:g.17960G>T
  • NM_001199551.1:c.586G>T
  • NM_022094.3:c.556G>T
  • NP_001186480.1:p.Glu196Ter
  • NP_071377.2:p.Glu186Ter
  • NC_000003.11:g.9908979C>A
Protein change:
E186*; GLU186TER
Links:
OMIM: 612120.0001; dbSNP: 587776968
NCBI 1000 Genomes Browser:
rs587776968
Molecular consequence:
  • NM_001199551.1:c.586G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Lipodystrophy, familial partial, type 5 (FPLD5)
Synonyms:
LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
Identifiers:
MedGen: C3808940; OMIM: 615238

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000071236OMIMno assertion criteria providedPathogenic
(Aug 1, 2009)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.

Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magré J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, et al.

EMBO Mol Med. 2009 Aug;1(5):280-7. doi: 10.1002/emmm.200900037.

PubMed [citation]
PMID:
20049731
PMCID:
PMC2891108

FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets.

Nishino N, Tamori Y, Tateya S, Kawaguchi T, Shibakusa T, Mizunoya W, Inoue K, Kitazawa R, Kitazawa S, Matsuki Y, Hiramatsu R, Masubuchi S, Omachi A, Kimura K, Saito M, Amo T, Ohta S, Yamaguchi T, Osumi T, Cheng J, Fujimoto T, Nakao H, et al.

J Clin Invest. 2008 Aug;118(8):2808-21. doi: 10.1172/JCI34090.

PubMed [citation]
PMID:
18654663
PMCID:
PMC2483680

Details of each submission

From OMIM, SCV000071236.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 19-year-old Ecuadorian girl with familial partial lipodystrophy-5 (FPLD5; 615238) and diabetes mellitus, Rubio-Cabezas et al. (2009) identified a homozygous c.556G-T transversion in exon 6 of the CIDEC gene, resulting in a glu186-to-ter (E186X) substitution predicted to result in loss of a significant part of the CIDE-C domain. The mutation, which was not present in 120 control alleles, was found in the heterozygous state in the unaffected mother; DNA from the father was not available. Expression of the mutant protein in COS cells or preadipocytes showed that the mutant protein failed to increase lipid droplet size compared to wildtype, consistent with a loss of function. Whereas most of the wildtype CIDEC localized around lipid droplets, mutant CIDEC was not, suggesting mislocalization. Adipose tissue from the patient showed white adipocytes with multilocular lipid droplets rather than the normal single large droplet, as well as focal increases in mitochondrial mass. Resting metabolic rate was increased. Rubio-Cabezas et al. (2009) noted that Cidec-null mice also have decreased fat mass, but are protected against diet-induced obesity and insulin resistance (Nishino et al., 2008), in contrast to their patient. The observations suggested that CIDEC is required for unilocular lipid droplet formation and optimal energy storage in human fat.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 29, 2015