Skip to main content
main-content

29.11.2018 | Original Article • UPPER LIMB - NERVE GRAFT

Thumb duplication: molecular analysis of different clinical types

Zeitschrift:
European Journal of Orthopaedic Surgery & Traumatology
Autoren:
Zisis Kyriazis, Panagoula Kollia, Ioanna Grivea, Sokratis E. Varitimidis, Pantelis Constantoulakis, Zoe H. Dailiana

Abstract

Purpose

Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations.

Materials and methods

In a series of patients operated for polydactyly, DNA was extracted from blood samples collected preoperatively. Among these, the samples of two patients with thumb duplication (Wassel types III and IV) were initially selected for molecular analysis. The method of Clinical Exome Solution was used for the study of the phenotype-involved genes. Next-generation sequencing (NGS) was performed on a NextSeq-500 Platform (Illumina), and Sophia DDM® SaaS algorithms were used for the bioinformatics analysis of the data.

Results

In total, 8—including 4 new—mutations were detected in CEP290 (1 mutation), RPGRIP1 (2 mutations), TMEM216 (2 mutations), FBN1 (1 mutation), CEP164 (1 mutation), and MEGF8 (1 mutation) genes. NGS revealed 3 mutated genes in the patient with Wassel III thumb duplication and 5 mutated genes in the patient with Wassel IV duplication. The molecular analysis revealed that the patients had 2 mutated genes in common, but they only shared one common mutation.

Conclusion

The new detected mutations are most probably associated with thumb duplication, as they belong to genes with already described mutations causing ciliopathies, often including polydactyly in their phenotype. Recognition of these mutations will be helpful to prenatal diagnosis, operative treatment strategy prediction, and possible future experimental applications in gene therapy.

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

★ PREMIUM-INHALT
e.Med Interdisziplinär

Mit e.Med Interdisziplinär erhalten Sie Zugang zu allen CME-Fortbildungen und Fachzeitschriften auf SpringerMedizin.de. Zusätzlich können Sie eine Zeitschrift Ihrer Wahl in gedruckter Form beziehen – ohne Aufpreis.

Weitere Produktempfehlungen anzeigen
Literatur
Über diesen Artikel
  1. Das kostenlose Testabonnement läuft nach 14 Tagen automatisch und formlos aus. Dieses Abonnement kann nur einmal getestet werden.

Neu im Fachgebiet Orthopädie und Unfallchirurgie

Mail Icon II Newsletter

Bestellen Sie unseren kostenlosen Newsletter Update Orthopädie und Unfallchirurgie und bleiben Sie gut informiert – ganz bequem per eMail.

Bildnachweise