Definition

This phenotype has been associated in the clinical literature with homozygous/compound heterozygous mutations in the CIDEC gene (a protein required for formation of a single large lipid droplet in adipocytes), and is also separately referred to in MedGen as 'CIDEC related familial partial lipodystrophy'. The clinical picture includes severe subcutaneous fat loss in the lower trunk and limbs, severe insulin resistance, type 2 diabetes, dyslipidemia, and hepatic steatosis.

Gene/region examined

CAV1 - Whole gene

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal recessive (in most reported cases).

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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