Definition

The SH3BP2 gene encodes an intracellular signaling protein involved in bone remodeling; a mutation in this gene is found in approximately 80% of cases. The mutant protein leads to inflammation and osteoclast activation in the jawbones. Painless jaw growth beginning in early childhood produces a 'chubby cheek' appearance; it stabilizes in adolescence and generally normalizes in young adulthood.

Gene/region examined

SH3BP2 - Exon 1, SH3BP2 - Exon 2, SH3BP2 - Exon 3, SH3BP2 - Exon 4, SH3BP2 - Exon 5, SH3BP2 - Exon 6, SH3BP2 - Exon 7, SH3BP2 - Exon 8, SH3BP2 - Exon 9, SH3BP2 - Exon 10, SH3BP2 - Exon 11, SH3BP2 - Exon 12, SH3BP2 - Exon 13

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant (AD).

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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