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Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.
Am J Med Genet A 2015; 167A(10):2451-8AJ

Abstract

Solitary Median Maxillary Central Incisor occurs in 1 of 50,000 live births. It is the mildest manifestation of the holoprosencephaly spectrum and is genetically heterogeneous. Here we report six patients with solitary median maxillary central incisor, and a range of other phenotypic anomalies with different degrees of severity, varying from mild signs of holoprosencephaly to associated intellectual disability, and with different genetic background. Using array comparative genomic hybridization, pathogenic copy number variants were found in three of the six patients. Two patients had a deletion at the 18p11 chromosomal region that includes TGIF1 while the other patient had a deletion at 7q36, including the SHH gene. In one patient, a mutation in SIX3 was detected with exome sequencing, while in the two remaining patients all known holoprosencephaly genes were excluded using multiplex ligation-dependent probe amplification and sequencing, and remain unsolved. One of the two latter patients had isolated solitary median maxillary central incisor without other visible dentofacial anomalies, while the other had clinical features not part of the known holoprosencephaly spectrum.

Authors+Show Affiliations

Department of Oral Health Sciences-Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven, Leuven, Belgium.Department of Orthodontics and Craniofacial Biology, College of Dentistry, Radboudumc, Nijmegen, The Netherlands. Department of Maxillofacial Reconstruction and Function, Maxillofacial Orthognathics, Division of Maxillofacial/Neck Reconstruction, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.Department of Human Genetics, KU Leuven and Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.Department of Oral and Maxillofacial Surgery, KU Leuven and University Hospitals Leuven, Leuven, Belgium.Department of Human Genetics, KU Leuven and Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.Department of Oral Health Sciences-Paediatric Dentistry and Special Care, KU Leuven and Dentistry, University Hospitals Leuven, Leuven, Belgium. Department of Paediatric Dentistry, Paul Sabatier University, Hôpitaux de Toulouse, France.Department of Otorhinolaryngology, Head and Neck Surgery, KU Leuven and University Hospitals Leuven, Leuven, Belgium.Department of Human Genetics, KU Leuven and Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.Department of Oral Health Sciences-Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven, Leuven, Belgium.Department of Oral Health Sciences-Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven, Leuven, Belgium. Department of Orthodontics and Craniofacial Biology, College of Dentistry, Radboudumc, Nijmegen, The Netherlands.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26080100

Citation

Poelmans, Simon, et al. "Genotypic and Phenotypic Variation in Six Patients With Solitary Median Maxillary Central Incisor Syndrome." American Journal of Medical Genetics. Part A, vol. 167A, no. 10, 2015, pp. 2451-8.
Poelmans S, Kawamoto T, Cristofoli F, et al. Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. Am J Med Genet A. 2015;167A(10):2451-8.
Poelmans, S., Kawamoto, T., Cristofoli, F., Politis, C., Vermeesch, J., Bailleul-Forestier, I., ... Carels, C. (2015). Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. American Journal of Medical Genetics. Part A, 167A(10), pp. 2451-8. doi:10.1002/ajmg.a.37207.
Poelmans S, et al. Genotypic and Phenotypic Variation in Six Patients With Solitary Median Maxillary Central Incisor Syndrome. Am J Med Genet A. 2015;167A(10):2451-8. PubMed PMID: 26080100.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. AU - Poelmans,Simon, AU - Kawamoto,Tatsuro, AU - Cristofoli,Francesca, AU - Politis,Constantinus, AU - Vermeesch,Joris, AU - Bailleul-Forestier,Isabelle, AU - Hens,Greet, AU - Devriendt,Koenraad, AU - Verdonck,Anna, AU - Carels,Carine, Y1 - 2015/06/16/ PY - 2015/02/06/received PY - 2015/06/03/accepted PY - 2015/6/17/entrez PY - 2015/6/17/pubmed PY - 2016/6/10/medline KW - Copy Number Variation (CNV) KW - Exome Sequencing (ES) KW - Holoprosencephaly (HPE) KW - Single Maxillary Median Central Incisor (SMMCI) KW - mutation analysis SP - 2451 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 167A IS - 10 N2 - Solitary Median Maxillary Central Incisor occurs in 1 of 50,000 live births. It is the mildest manifestation of the holoprosencephaly spectrum and is genetically heterogeneous. Here we report six patients with solitary median maxillary central incisor, and a range of other phenotypic anomalies with different degrees of severity, varying from mild signs of holoprosencephaly to associated intellectual disability, and with different genetic background. Using array comparative genomic hybridization, pathogenic copy number variants were found in three of the six patients. Two patients had a deletion at the 18p11 chromosomal region that includes TGIF1 while the other patient had a deletion at 7q36, including the SHH gene. In one patient, a mutation in SIX3 was detected with exome sequencing, while in the two remaining patients all known holoprosencephaly genes were excluded using multiplex ligation-dependent probe amplification and sequencing, and remain unsolved. One of the two latter patients had isolated solitary median maxillary central incisor without other visible dentofacial anomalies, while the other had clinical features not part of the known holoprosencephaly spectrum. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26080100/Genotypic_and_phenotypic_variation_in_six_patients_with_solitary_median_maxillary_central_incisor_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.37207 DB - PRIME DP - Unbound Medicine ER -