Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. (16th June 2015)

• Record Type: Journal Article
• Authors: Poelmans, Simon; Kawamoto, Tatsuro; Cristofoli, Francesca; Politis, Constantinus; Vermeesch, Joris; Bailleul‐Forestier, Isabelle; Hens, Greet; Devriendt, Koenraad; Verdonck, Anna; Carels, Carine
• Is Part Of: American journal of medical genetics. Volume 167:Number 10(2015:Oct.)
• Page Start: 2451
• Page End: 2458
• Publication Date: 2015-06-16
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37207
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37207-sec-0001" sec-type="section"> <p>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 <italic>TGIF1</italic> while the other patient had a deletion at 7q36, including the <italic>SHH</italic> gene. In one patient, a mutation in <italic>SIX3</italic> 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.</p> </sec> </abstract>