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Article

Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.

Genes - 12 Apr 2023

El-Kamah Ghada Y, Mehrez Mennat I, Taher Mohamed B, El-Bassyouni Hala T, Gaber Khaled R, Amr Khalda S

Abstract excerpt

TCIRG1 gene mutations underlie osteopetrosis, a rare genetic disorder impacting osteoclast function with consequent brittle bones prone to fracture, in spite of being characterized by increased bone density. The disorder is known to exhibit marked genetic heterogeneity, has no treatment, and is lethal in most instances. There are reports of ethnic variations affecting bone mineral density and variants' expression...

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PMID: 37107657
DOI: 10.3390/genes14040900
PMCID: PMC10137576

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