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Single median maxillary central incisor: new data and mutation review.

Abstract

BACKGROUND

Single median maxillary central incisor (SMMCI) is a rare anomaly that may occur alone or associated with other conditions, frequently as part of the holoprosencephaly (HPE) spectrum. However, it has been suggested that SMMCI alone, or associated with some midline defects, may be considered a different entity from HPE (OMIM: 147250). Families with SMMCI, without HPE cases, are difficult to counsel for the risk of HPE in future generations because the same midline defects described as part of the "SMMCI syndrome" can also be part of the HPE spectrum.

METHODS

We screened five cases of SMMCI for mutations in three HPE genes, SHH, TGIF, and SIX3.

RESULTS

A missense mutation c.686C>T was found in the gene SIX3 of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases. Our results and an extensive literature review of gene mutations in patients with SMMCI showed that 27/28 of them were in HPE genes: SHH (n = 21), SIX3 (n = 3), TGIF (n = 1), GLI2 (n = 1), and PTCH (n = 1), and only one in the SALL4 gene.

CONCLUSIONS

The clinical findings in patients with SMMCI without HPE in families with mutations in HPE genes cannot be distinguished from the findings reported in the SMMCI syndrome. Therefore, persons with SMMCI and their relatives should be carefully investigated for related midline disorders, especially of the HPE spectrum, and all known HPE genes screened.

Authors+Show Affiliations

Estudo Latino Americano de Malformações Congênitas, Departamento de Genética, Universidade Federal do Rio de Janeiro, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17584896

Citation

El-Jaick, Kênia B., et al. "Single Median Maxillary Central Incisor: New Data and Mutation Review." Birth Defects Research. Part A, Clinical and Molecular Teratology, vol. 79, no. 8, 2007, pp. 573-80.
El-Jaick KB, Fonseca RF, Moreira MA, et al. Single median maxillary central incisor: new data and mutation review. Birth Defects Res Part A Clin Mol Teratol. 2007;79(8):573-80.
El-Jaick, K. B., Fonseca, R. F., Moreira, M. A., Ribeiro, M. G., Bolognese, A. M., Dias, S. O., ... Orioli, I. M. (2007). Single median maxillary central incisor: new data and mutation review. Birth Defects Research. Part A, Clinical and Molecular Teratology, 79(8), pp. 573-80.
El-Jaick KB, et al. Single Median Maxillary Central Incisor: New Data and Mutation Review. Birth Defects Res Part A Clin Mol Teratol. 2007;79(8):573-80. PubMed PMID: 17584896.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Single median maxillary central incisor: new data and mutation review. AU - El-Jaick,Kênia B, AU - Fonseca,Renata F, AU - Moreira,Miguel A, AU - Ribeiro,Márcia G, AU - Bolognese,Ana M, AU - Dias,Sânia O, AU - Pereira,Eliane T, AU - Castilla,Eduardo E, AU - Orioli,Iêda M, PY - 2007/6/23/pubmed PY - 2007/10/3/medline PY - 2007/6/23/entrez SP - 573 EP - 80 JF - Birth defects research. Part A, Clinical and molecular teratology JO - Birth Defects Res. Part A Clin. Mol. Teratol. VL - 79 IS - 8 N2 - BACKGROUND: Single median maxillary central incisor (SMMCI) is a rare anomaly that may occur alone or associated with other conditions, frequently as part of the holoprosencephaly (HPE) spectrum. However, it has been suggested that SMMCI alone, or associated with some midline defects, may be considered a different entity from HPE (OMIM: 147250). Families with SMMCI, without HPE cases, are difficult to counsel for the risk of HPE in future generations because the same midline defects described as part of the "SMMCI syndrome" can also be part of the HPE spectrum. METHODS: We screened five cases of SMMCI for mutations in three HPE genes, SHH, TGIF, and SIX3. RESULTS: A missense mutation c.686C>T was found in the gene SIX3 of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases. Our results and an extensive literature review of gene mutations in patients with SMMCI showed that 27/28 of them were in HPE genes: SHH (n = 21), SIX3 (n = 3), TGIF (n = 1), GLI2 (n = 1), and PTCH (n = 1), and only one in the SALL4 gene. CONCLUSIONS: The clinical findings in patients with SMMCI without HPE in families with mutations in HPE genes cannot be distinguished from the findings reported in the SMMCI syndrome. Therefore, persons with SMMCI and their relatives should be carefully investigated for related midline disorders, especially of the HPE spectrum, and all known HPE genes screened. SN - 1542-0752 UR - https://www.unboundmedicine.com/medline/citation/17584896/Single_median_maxillary_central_incisor:_new_data_and_mutation_review_ L2 - https://doi.org/10.1002/bdra.20380 DB - PRIME DP - Unbound Medicine ER -