Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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Update: Sept. 26, 2018