Definition

The PTPN11 gene encodes the SHP-2 protein tyrosine phosphatase, which functions in the RAS-MAPK signaling pathway; gain-of-function mutations lead to excessive activation of the pathway. Congenital heart anomalies are seen in ~84% of patients; characteristic facial appearance, short stature, and cryptorchidism in males also accompany it; PTPN11 variants are responsible for approximately half of the cases.

Gene/region examined

PTPN11 - Exon 1, PTPN11 - Exon 2, PTPN11 - Exon 3, PTPN11 - Exon 4, PTPN11 - Exon 5, PTPN11 - Exon 6, PTPN11 - Exon 7, PTPN11 - Exon 8, PTPN11 - Exon 9, PTPN11 - Exon 10, PTPN11 - Exon 11, PTPN11 - Exon 12, PTPN11 - Exon 13, PTPN11 - Exon 14, PTPN11 - Exon 15

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant (mostly de novo).

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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