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

AI Article Synopsis

  • - Osteopetrosis is a rare genetic disorder caused by gene mutations that disrupt osteoclast function, leading to brittle bones despite increased density, and it is often fatal with marked genetic diversity.
  • - The study focuses on the autosomal recessive malignant form of osteopetrosis, reviewing data from 1800 Egyptian exomes and involving twenty families to explore genetic mutations and their impact.
  • - Researchers identified five new pathogenic variants associated with the disorder, enabling better genetic counseling, carrier detection, and prenatal diagnosis, potentially influencing future genomic therapies.

Article Abstract

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 as diverse phenotypes even within individuals descending from the same pedigree. We herein focus on one of osteopetrosis's three types: the autosomal recessive malignant form (MIM 259700) (ARO) that is almost always associated with severe clinical symptoms. We reviewed the results of about 1800 Egyptian exomes and we did not detect similar variants within our Egyptian dataset and secondary neurological deficit. We studied twenty Egyptian families: sixteen ARO patients, ten carrier parents with at least one ARO affected sib, and two fetuses. They were all subjected to thorough evaluation and gene sequencing. Our results of twenty-eight individuals descending from twenty Egyptian pedigrees with at least one ARO patient, expand the phenotype as well as genotype spectrum of recessive mutations in the gene by five novel pathogenic variants. Identifying gene mutations in Egyptian patients with ARO allowed the provision of proper genetic counseling, carrier detection, and prenatal diagnosis starting with two families included herein. It also could pave the way to modern genomic therapeutic approaches.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137576PMC
http://dx.doi.org/10.3390/genes14040900DOI Listing

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