Agnathia-otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes

Sean Herman, Maria Delio, Bernice E. Morrow, Joy Samanich

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)124-129
Number of pages6
JournalGene
Volume494
Issue number1
DOIs
StatePublished - Feb 15 2012

Fingerprint

Microstomia
Micrognathism
Ear
Genes
Mutation
Medical Genetics
Eyelids
Mandible
DNA
Otocephaly

Keywords

  • Agnathia
  • Craniofacial
  • Otocephaly
  • OTX2
  • PRRX1

ASJC Scopus subject areas

  • Genetics

Cite this

Agnathia-otocephaly complex : A case report and examination of the OTX2 and PRRX1 genes. / Herman, Sean; Delio, Maria; Morrow, Bernice E.; Samanich, Joy.

In: Gene, Vol. 494, No. 1, 15.02.2012, p. 124-129.

Research output: Contribution to journalArticle

Herman, Sean ; Delio, Maria ; Morrow, Bernice E. ; Samanich, Joy. / Agnathia-otocephaly complex : A case report and examination of the OTX2 and PRRX1 genes. In: Gene. 2012 ; Vol. 494, No. 1. pp. 124-129.
@article{b52d96bd57f04f6f88fe5dd59e81f862,
title = "Agnathia-otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes",
abstract = "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.",
keywords = "Agnathia, Craniofacial, Otocephaly, OTX2, PRRX1",
author = "Sean Herman and Maria Delio and Morrow, {Bernice E.} and Joy Samanich",
year = "2012",
month = "2",
day = "15",
doi = "10.1016/j.gene.2011.11.033",
language = "English (US)",
volume = "494",
pages = "124--129",
journal = "Gene",
issn = "0378-1119",
publisher = "Elsevier",
number = "1",

}

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 E.

AU - Samanich, Joy

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 - Otocephaly

KW - OTX2

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

VL - 494

SP - 124

EP - 129

JO - Gene

JF - Gene

SN - 0378-1119

IS - 1

ER -