Τίτλος:
Thumb duplication: molecular analysis of different clinical types
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2018, Springer-Verlag France SAS, part of Springer Nature.
Συγγραφείς:
Kyriazis, Z.
Kollia, P.
Grivea, I.
Varitimidis, S.E.
Constantoulakis, P.
Dailiana, Z.H.
Περιοδικό:
EUROPEAN JOURNAL OF ORTHOPAEDIC SURGERY AND TRAUMATOLOGY
Εκδότης:
Springer-Verlag France
Λέξεις-κλειδιά:
DNA; CEP164 protein, human; Cep290 protein, human; FBN1 protein, human; fibrillin 1; MEGF8 protein, human; membrane protein; microtubule protein; protein; RPGRIP1 protein, human; TMEM216 protein, human; tumor antigen; tumor protein, Article; CEP164 gene; CEP290 gene; child; clinical article; disease classification; FBN1 gene; female; gene; gene mutation; hand surgery; human; infant; male; MEGF8 gene; mutational analysis; next generation sequencing; osteotomy; polydactyly; preoperative period; preschool child; priority journal; RPGRIP1 gene; thumb duplication; thumb malformation; TMEM216 gene; abnormalities; biology; diagnostic imaging; dna mutational analysis; genetics; high throughput sequencing; mutation; phenotype; radiography; thumb, Antigens, Neoplasm; Computational Biology; DNA Mutational Analysis; Female; Fibrillin-1; High-Throughput Nucleotide Sequencing; Humans; Infant; Male; Membrane Proteins; Microtubule Proteins; Mutation; Neoplasm Proteins; Phenotype; Polydactyly; Proteins; Radiography; Thumb
DOI:
10.1007/s00590-018-2343-3
