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Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

Updated: May 23, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Mutations in GRIP1 cause Fraser syndrome.

Maartje J Vogel¹, Patrick van Zon, Louise Brueton

¹Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. m.j.vogel@umcutrecht.nl

Journal of Medical Genetics

|April 19, 2012

Summary

Genetic mutations in GRIP1 cause Fraser syndrome (FS), a rare genetic disorder. This discovery expands the known genetic causes of FS, offering new diagnostic avenues for affected families.

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Published on: December 1, 2017

Area of Science:

Genetics
Developmental Biology
Molecular Biology

Background:

Fraser syndrome (FS) is an autosomal recessive disorder characterized by cryptophthalmos, syndactyly, and urogenital defects.
Genetic heterogeneity of FS has been observed, with mutations in FRAS1 and FREM2 identified as primary causes.
FRAS1 and FREM2 encode extracellular matrix proteins crucial for embryonic skin development.

Observation:

This study investigated GRIP1, a gene encoding a scaffolding protein interacting with Fras1/Frem proteins, in FS families lacking FRAS1/FREM2 mutations.
Murine Grip1 mutations are known to cause FS-like defects, suggesting a conserved role in mammals.

Findings:

Mutations in GRIP1 were identified in three unrelated families with Fraser syndrome.
Specific GRIP1 mutations (c.2113+1G→C splice site and c.1181_1184del) segregated with the disease in an autosomal recessive pattern.
The splice site mutation resulted in exon skipping, frameshift, and premature stop codon, confirming its pathogenic mechanism.

Implications:

GRIP1 mutations are a newly identified cause of classic Fraser syndrome in humans.
This finding broadens the genetic landscape of Fraser syndrome.
Understanding GRIP1's role provides insights into embryonic development and potential therapeutic targets.