Abstract
This study aimed to identify the genetic cause of one Chinese family with solitary median maxillary central incisor (SMMCI) and explore the relationship between genotype and its phenotype. One Chinese family with clinical diagnosis of SMMCI was collected. Single Nucleotide Polymorphism (SNP) array was performed and identified variation was confirmed by whole-genome sequencing (WGS). The reported chromosomal abnormalities and pathogenic genes in patients with SMMCI in literature were reviewed and summarized. The proband was an 8-year-old boy presenting a typical solitary median maxillary central incisor with a range of other phenotypic anomalies, including ptosis. SNP array revealed a 14.3 Mbp heterozygous deletion at chromosome 18p11.32-p11.21 in the proband but not in the unaffected parents. WGS further confirmed the identified deletion. 194 genes were involved in the chromosome region. Among them, 12 genes had been shown to be associated with diseases, including TGIF1, a reported SMMCI gene. The de novo 18p deletion resulted in SMMCI in the present study. Our results provide new genetic evidence that structural abnormality in chromosome 18p contributes to solitary median maxillary central incisor.
Highlights
Solitary median maxillary central incisor (SMMCI; MIM 147250) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and related dentition, together with other midline structures of the body (Hall, 2006)
This study aimed to identify the genetic cause of one Chinese family with solitary median maxillary central incisor (SMMCI) and explore the relationship between genotype and its phenotype
A heterozygous deletion at the chromosome 18p region that includes the TGFB induced factor homeobox 1 gene (TGIF1) gene was identified in one Chinese family with a typical SMMCI phenotype
Summary
Solitary median maxillary central incisor (SMMCI; MIM 147250) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and related dentition ( the central incisor tooth germ), together with other midline structures of the body (Hall, 2006). It is an autosomal dominant genetic disease. Short stature is present in half of the patients (Nanni et al, 2001; Hall, 2006)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
