Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Immunoglobulin superfamily member 1

The IGSF1 gene encodes a receptor protein expressed in the pituitary gland. Mutations cause central hypothyroidism and testicular enlargement.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Central hypothyroidism and testicular enlargement



Frattini A et. al. (1996) Computer gene mapping by Eagl-based STSs.


Nagase T et. al. (1997) Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.


Mazzarella R et. al. (1998) Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25.


Frattini A et. al. (1998) Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25.


Bernard DJ et. al. (2003) Normal reproductive function in InhBP/p120-deficient mice.


Sun Y et. al. (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

Update: Sept. 26, 2018