Journal article
Recurrent agnathia-Otocephaly caused by DNA replication slippage in PRRX1
American journal of medical genetics. Part A, Vol.161A(4), pp.803-808
04/01/2013
DOI: 10.1002/ajmg.a.35879
PMID: 23444262
Abstract
Agnathiaotocephaly 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 agnathiaotocephaly. 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 agnathiaotocephaly represent a spectrum of craniofacial malformations in this family. (c) 2013 Wiley Periodicals, Inc.
Details
- Title: Subtitle
- Recurrent agnathia-Otocephaly caused by DNA replication slippage in PRRX1
- Creators
- Majed Dasouki - University of Kansas Medical CenterBrian Andrews - University of Kansas Medical CenterPrabhu Parimi - University of Kansas Medical CenterDeepak Kamnasaran - Université Laval
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.161A(4), pp.803-808
- DOI
- 10.1002/ajmg.a.35879
- PMID
- 23444262
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Publisher
- Wiley
- Number of pages
- 6
- Grant note
- Faculty of Medicine Foundation, Natural Sciences and Engineering Research Council, Laval University CHUQ foundation, Fondation des etoiles, Canadian Foundation
- Language
- English
- Date published
- 04/01/2013
- Academic Unit
- Craniofacial Anomalies Research Center; Neurosurgery; Otolaryngology
- Record Identifier
- 9984366376202771
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