Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Protocadherin Fat 4

The FAT4 gene encodes a protocadherin which is involved in regulating planar cell polarity. Mutations cause autosomal recessive diseases such as Van Maldergem Syndrome 2 and Hennekam lymphangiectasia-lymphedema syndrome 2.

Genetests:

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:

Hennekam lymphangiectasia-lymphedema syndrome 2
FAT4
Van Maldergem syndrome 2
FAT4

References:

1.

Katoh Y et al. (2006) Comparative integromics on FAT1, FAT2, FAT3 and FAT4.

external link
2.

Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

external link
3.

Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome.

external link
4.

Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

external link
5.

Neuhann TM et al. (2012) A further patient with van Maldergem syndrome.

external link
6.

Mansour S et al. (2012) Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

external link
7.

Cappello S et al. (2013) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

external link
8.

Hoeng JC et al. (2004) Identification of new human cadherin genes using a combination of protein motif search and gene finding methods.

external link
9.

Saburi S et al. (2008) Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease.

external link
10.

NCBI article

NCBI 79633 external link
11.

OMIM.ORG article

Omim 612411 external link
12.

Orphanet article

Orphanet ID 371950 external link
13.

Wikipedia article

Wikipedia EN (FAT4) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues