Otocephaly or agnathia-synotia-microstomia syndrome: report of a case

O’Neill, Brian M.; Alessi, Anthony S.; Petti, Norman A.

doi:10.1016/s0278-2391(03)00160-5

Cited by 16 publications

(11 citation statements)

References 3 publications

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“…This malformation spectrum is usually lethal, because of the resulting pulmonary hypoplasia, and its associated severe respiratory problems. Only a few individuals had been reported to survive into childhood [Brecht and Johnson, 1985; Kamiji et al, 1991; Walker et al, 1995; Shermak and Dufresne, 1996; Rust et al, 1999; Erlich et al, 2000; O'Neill et al, 2003; Chassaing et al, 2012].…”

Section: Introductionmentioning

confidence: 99%

Recurrent agnathia–otocephaly caused by DNA replication slippage in PRRX1

Dasouki

Andrews

Parimi

et al. 2013

American J of Med Genetics Pt A

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Agnathia-otocephaly is a rare craniofacial malformation complex that is caused by de novo heterozygous and biallelic mutations in PRRX1 in two unrelated babies, respectively. We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). Her older affected brother died shortly after birth and had agnathia-otocephaly. A c.266_269dupAAAA frameshift mutation in the poly A tract in PRRX1 was identified in the proband while her father only had an inframe duplication (c.267_269dupAAA) of the adenosine trinucleotide residue. Expression of both mutations in COS7 cells showed loss of function of the frame shift mutation only. Results of SNP genotyping coupled with recurrence of this novel mutation in this family are consistent with a paternally derived germline mosaicism rather than autosomal recessive inheritance as predicted by the family history. Severe retrognathia (bilateral Pruzansky III) and agnathia-otocephaly represent a spectrum of craniofacial malformations in this family.

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Section: Introductionmentioning

confidence: 99%

Recurrent agnathia–otocephaly caused by DNA replication slippage in PRRX1

Dasouki

Andrews

Parimi

et al. 2013

American J of Med Genetics Pt A

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“…Therefore, agnathia-otocephaly is thought to represent a heterogenous developmental field defect with a spectrum of expression patterns ranging from isolated agnathia, agnathia with holoproscencephaly or visceral anomalies, and agnathia with both holoproscencephaly and visceral anomalies, or situs inversus (Kauvar et al, 2010;Leech et al, 1988;O'Neill et al, 2003;Wyatt et al, 2008).…”

Section: Discussionmentioning

confidence: 99%