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Published on: February 23, 2024
Single median maxillary central incisor: new data and mutation review
Kênia B El-Jaick1, Renata F Fonseca, Miguel A Moreira
1Estudo Latino Americano de Malformações Congênitas, Departamento de Genética, Universidade Federal do Rio de Janeiro, Brazil.
Summary
Single median maxillary central incisor (SMMCI) is often linked to holoprosencephaly (HPE). Genetic analysis reveals most SMMCI cases involve HPE genes, necessitating thorough screening for HPE-related midline disorders.
Area of Science:
- Genetics
- Developmental Biology
- Medical Research
Background:
- Single median maxillary central incisor (SMMCI) is a rare dental anomaly.
- SMMCI can occur independently or as part of the holoprosencephaly (HPE) spectrum.
- Distinguishing SMMCI alone from HPE is challenging due to overlapping midline defects.
Observation:
- Five SMMCI cases were screened for mutations in key HPE genes (SHH, TGIF, SIX3).
- One patient had a missense mutation in the SIX3 gene.
- A literature review indicated 27 out of 28 SMMCI patients had mutations in known HPE genes.
Findings:
- The clinical presentation of SMMCI without HPE, but with HPE gene mutations, is indistinguishable from SMMCI syndrome.
- Mutations were predominantly found in SHH (21 cases) and SIX3 (3 cases).
- Only one SMMCI case involved a mutation in the SALL4 gene.
Implications:
- Individuals with SMMCI require careful evaluation for HPE spectrum disorders.
- Genetic screening for all known HPE genes is recommended for SMMCI patients and their families.
- This research aids in better genetic counseling for families affected by SMMCI.
