Tags

Type your tag names separated by a space and hit enter

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
Am J Med Genet 2001; 102(1):1-10AJ

Abstract

Solitary median maxillary central incisor (SMMCI) or single central incisor is a rare dental anomaly. It has been reported in holoprosencephaly (HPE) cases with severe facial anomalies or as a microform in autosomal dominant HPE (ADHPE). In our review of the literature, we note that SMMCI may also occur as an isolated finding or in association with other systemic abnormalities. These anomalies include short stature, pituitary insufficiency, microcephaly, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis. SMMCI can also be a feature of recognized syndromes or associations or a finding in patients with specific chromosomal abnormalities. We performed a molecular study on a cohort of 13 SMMCI patients who did not have HPE. We studied two genes, Sonic Hedgehog (SHH) and SIX3, in which mutations have been reported in patients showing SMMCI as part of the HPE spectrum. A new missense mutation in SHH (I111F), segregating in one SMMCI family, was identified. Our results suggest that this mutation may be specific for the SMMCI phenotype since it has not been found in the HPE population or in normal controls. Published 2001 Wiley-Liss, Inc.

Authors+Show Affiliations

Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

11471164

Citation

Nanni, L, et al. "SHH Mutation Is Associated With Solitary Median Maxillary Central Incisor: a Study of 13 Patients and Review of the Literature." American Journal of Medical Genetics, vol. 102, no. 1, 2001, pp. 1-10.
Nanni L, Ming JE, Du Y, et al. SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet. 2001;102(1):1-10.
Nanni, L., Ming, J. E., Du, Y., Hall, R. K., Aldred, M., Bankier, A., & Muenke, M. (2001). SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. American Journal of Medical Genetics, 102(1), pp. 1-10.
Nanni L, et al. SHH Mutation Is Associated With Solitary Median Maxillary Central Incisor: a Study of 13 Patients and Review of the Literature. Am J Med Genet. 2001 Jul 22;102(1):1-10. PubMed PMID: 11471164.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. AU - Nanni,L, AU - Ming,J E, AU - Du,Y, AU - Hall,R K, AU - Aldred,M, AU - Bankier,A, AU - Muenke,M, PY - 2001/7/27/pubmed PY - 2001/8/24/medline PY - 2001/7/27/entrez SP - 1 EP - 10 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 102 IS - 1 N2 - Solitary median maxillary central incisor (SMMCI) or single central incisor is a rare dental anomaly. It has been reported in holoprosencephaly (HPE) cases with severe facial anomalies or as a microform in autosomal dominant HPE (ADHPE). In our review of the literature, we note that SMMCI may also occur as an isolated finding or in association with other systemic abnormalities. These anomalies include short stature, pituitary insufficiency, microcephaly, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis. SMMCI can also be a feature of recognized syndromes or associations or a finding in patients with specific chromosomal abnormalities. We performed a molecular study on a cohort of 13 SMMCI patients who did not have HPE. We studied two genes, Sonic Hedgehog (SHH) and SIX3, in which mutations have been reported in patients showing SMMCI as part of the HPE spectrum. A new missense mutation in SHH (I111F), segregating in one SMMCI family, was identified. Our results suggest that this mutation may be specific for the SMMCI phenotype since it has not been found in the HPE population or in normal controls. Published 2001 Wiley-Liss, Inc. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11471164/SHH_mutation_is_associated_with_solitary_median_maxillary_central_incisor:_a_study_of_13_patients_and_review_of_the_literature_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2001&volume=102&issue=1&spage=1 DB - PRIME DP - Unbound Medicine ER -