Artikel: [Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023 Band 40, Heft 7, Seite(n) 856–859
Abstract: ... chondrodysplasia.: Methods: Clinical data of the child and her parents was collected. The child was subjected ... chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic ... Objective: To analyze the clinical features and genotype of a child with Schmid type metaphyseal ...
| Abstract | Objective: To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia. Methods: Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members. Results: Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion: The heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene. |
|---|---|
| Mesh-Begriff(e) | Humans ; Child ; Female ; Mutation ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/diagnosis ; Heterozygote ; Molecular Biology |
| Sprache | Chinesisch |
| Erscheinungsdatum | 2023-06-27 |
| Erscheinungsland | China |
| Dokumenttyp | English Abstract ; Journal Article |
| ISSN | 1003-9406 |
| ISSN | 1003-9406 |
| DOI | 10.3760/cma.j.cn511374-20220504-00305 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
Zusatzmaterialien
Kategorien
Über subito bestellen
Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.
Fernleihe an ZB MED
Sie können sich den gewünschten Titel als lokale Nutzerin oder lokaler Nutzer von ZB MED direkt an den Standort Köln schicken lassen.