TY - JOUR
T1 - Agnathia-otocephaly complex
T2 - A case report and examination of the OTX2 and PRRX1 genes
AU - Herman, Sean
AU - Delio, Maria
AU - Morrow, Bernice
AU - Samanich, Joy
N1 - Funding Information:
We would like to thank the family for their participation in our study. Funding was provided by the Department of Pediatrics, Children's Evaluation and Rehabilitation Center and the Human Genetics Program at the Albert Einstein College of Medicine .
PY - 2012/2/15
Y1 - 2012/2/15
N2 - Agnathia-otocephaly is a rare, often lethal malformation characterized by absence or hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior midline fusion of the ears (melotia, synotia). Etiologies have been linked to both genetic and teratogenic factors and to date, a definitive, commonly identifiable cause has not been recognized. Mouse and human genetic studies have implicated OTX2 and PRRX1 as potential candidate genes for agnathia-otocephaly. In this study we report a sporadic case of agnathia-otocephaly complex with associated features of maldevelopment and examine the roles of OTX2 and PRRX1. The proband, a male born at 31. weeks, displayed severe micrognathia, microstomia, posteriorly-rotated and low set ears, and downward slanting palpebral fissures. Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected. This suggests that mutations in different genes or environmental causes are responsible.
AB - Agnathia-otocephaly is a rare, often lethal malformation characterized by absence or hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior midline fusion of the ears (melotia, synotia). Etiologies have been linked to both genetic and teratogenic factors and to date, a definitive, commonly identifiable cause has not been recognized. Mouse and human genetic studies have implicated OTX2 and PRRX1 as potential candidate genes for agnathia-otocephaly. In this study we report a sporadic case of agnathia-otocephaly complex with associated features of maldevelopment and examine the roles of OTX2 and PRRX1. The proband, a male born at 31. weeks, displayed severe micrognathia, microstomia, posteriorly-rotated and low set ears, and downward slanting palpebral fissures. Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected. This suggests that mutations in different genes or environmental causes are responsible.
KW - Agnathia
KW - Craniofacial
KW - OTX2
KW - Otocephaly
KW - PRRX1
UR - http://www.scopus.com/inward/record.url?scp=84856091379&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84856091379&partnerID=8YFLogxK
U2 - 10.1016/j.gene.2011.11.033
DO - 10.1016/j.gene.2011.11.033
M3 - Article
C2 - 22198066
AN - SCOPUS:84856091379
SN - 0378-1119
VL - 494
SP - 124
EP - 129
JO - Gene
JF - Gene
IS - 1
ER -