Hereditary Hemorrhagic Telangiectasia has mutations in which major genes?

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is associated with mutations in specific genes that play critical roles in vascular development and integrity. The most commonly implicated genes in HHT are ACVRL1, ENG, and SMAD4.

ACVRL1 (also known as ALK1) and ENG (endoglin) are primarily involved in the transforming growth factor-beta (TGF-β) signaling pathway, which is crucial for blood vessel formation and stability. Mutations in these genes disrupt normal vascularization, leading to the characteristic arteriovenous malformations (AVMs) and telangiectasias found in patients with HHT. Additionally, mutations in SMAD4 are associated with a combined phenotype of both HHT and juvenile polyposis syndrome, emphasizing its role in the same pathway.

The other answer choices refer to different genetic conditions or mutations not associated with HHT. For instance, the genes IKBKG and EDA are involved in conditions like X-linked hypohidrotic ectodermal dysplasia, while NIPBL and KMT2D mutations are linked with Cornelia de Lange syndrome. PIGN and