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January 5, 2026
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Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes

Publicated to: CLINICAL GENETICS. - 2025-10-15 (), DOI: 10.1111/cge.70091

Authors:

Elhady, G; Amin, AK; Iturrate, A; El-Dessouky, S; Nevado, J; Campos-Xavier, B; Matsa, LS; Giunta, C; Lapunzina, P; Ruiz-Perez, VL; Abdalla, E
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Affiliations

Alexandria Univ, Med Res Inst, Dept Human Genet - Author
CIBERER Ctr Invest Biomed Red Enfermedades Raras - Author
Ctr Hospitalier Univ Vaudois, Serv Med Genet, Lab Malad Mol, CHUV - Author
Hosp Univ La Paz, Inst Genet Med & Mol INGEMM IdiPAZ - Author
Igenomix, Genom Precis Diagnost Dept - Author
Natl Res Ctr, Human Genet & Genome Res Inst, Prenatal Diag & Fetal Med Dept - Author
Univ Zurich - Author
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Abstract

Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder marked by bone fragility and deformities. This study aimed to define the clinical and molecular characteristics of 21 OI patients from 15 unrelated Egyptian families. Most probands were analyzed by exome sequencing. In three consanguineous cases, variants were identified through SNP array-based homozygosity mapping followed by direct sequencing of a candidate gene. Genotype-phenotype correlations were additionally explored. Parental consanguinity was documented in 66.7% (10/15) of the total cohort and in 100% (8/8) of the families with autosomal recessive OI. Pathogenic or likely pathogenic variants were identified in 14 families, five of which were novel. A variant of uncertain significance was identified in the remaining family. COL1A1 and COL1A2 (n = 7) were the most commonly mutated genes, followed by CRTAP (n = 4), while variants in P3H1, WNT1, CREB3L1, and SEC24D were each identified in a single patient. The present study highlights the molecular heterogeneity of OI. In total, 15 distinct variants in seven OI-related genes were identified. We also report a particularly high number of OI lethal forms affecting 10 patients out of 21. The study adds further evidence for the utility of ES in the genetic diagnosis of OI, which facilitates counseling and personalized care.
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Keywords

Col1a1Col1a2CrtapLethal oiOsteogenesis imperfecta

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal CLINICAL GENETICS due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2025, it was in position , thus managing to position itself as a Q2 (Segundo Cuartil), in the category Genetics (Clinical). Notably, the journal is positioned en el Cuartil Q3 for the agency WoS (JCR) in the category Genetics & Heredity.

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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-05:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 1.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 1 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 1.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).
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Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Egypt; Switzerland.

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