Details

Autor(en) / Beteiligte

• Massadeh, Salam
• Alhabshan, Fahad
• AlSudairi, Hadeel N
• Alkwai, Sarah
• Alsuwailm, Moneera
• Kabbani, Mohamed S
• Chaikhouni, Farah
• Alaamery, Manal

Titel

The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome

Ist Teil von

• Genes, 2022-01, Vol.13 (2), p.236

Ort / Verlag

Switzerland: MDPI AG

Erscheinungsjahr

2022

Quelle

MEDLINE

Beschreibungen/Notizen

• Frank-Ter Haar syndrome (FTHS), sometimes referred to as Ter Haar syndrome, is a rare hereditary disorder that manifests in skeletal, cardiac, and ocular anomalies, including hypertelorism, glaucoma, prominent eyes, and facial abnormalities. In this study, we performed whole-exome sequencing (WES) to identify the genetic component responsible for the phenotype of the index patient, a male infant born to a consanguineous family from Saudi Arabia. The analysis revealed a homozygous missense variant, c.280C>G, in the SH3PXD2B gene, which cosegregates with the familial phenotype with a plausible autosomal-recessive mode of inheritance, indicating a potential disease-causing association. The SH3PXD2B gene encodes a TKS4 podosome adaptor protein that regulates the epidermal growth factor signaling pathway. This study validates the critical function of the TKS4 podosome protein by suggesting a common mechanism underlying the pathogenesis of FTHS.