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Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome
Author(s) -
Poelmans Simon,
Kawamoto Tatsuro,
Cristofoli Francesca,
Politis Constantinus,
Vermeesch Joris,
BailleulForestier Isabelle,
Hens Greet,
Devriendt Koenraad,
Verdonck Anna,
Carels Carine
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37207
Subject(s) - variation (astronomy) , maxillary central incisor , genotype , incisor , biology , medicine , phenotype , orthodontics , genetics , gene , physics , astrophysics
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. © 2015 Wiley Periodicals, Inc.