Fryns syndrome associated with recessive mutations in PIGN in two separate families

Mcinerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher, Anderson, Lisa K., Wheeler, Lawrie, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2016) Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37 7: 695-702. doi:10.1002/humu.22994

Author Mcinerney-Leo, Aideen M.
Harris, Jessica E.
Gattas, Michael
Peach, Elizabeth E.
Sinnott, Stephen
Dudding-Byth, Tracy
Rajagopalan, Sulekha
Barnett, Christopher
Anderson, Lisa K.
Wheeler, Lawrie
Brown, Matthew A.
Leo, Paul J.
Wicking, Carol
Duncan, Emma L.
Title Fryns syndrome associated with recessive mutations in PIGN in two separate families
Journal name Human Mutation   Check publisher's open access policy
ISSN 1098-1004
Publication date 2016-06
Year available 2016
Sub-type Article (original research)
DOI 10.1002/humu.22994
Open Access Status Not yet assessed
Volume 37
Issue 7
Start page 695
End page 702
Total pages 8
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Collection year 2017
Language eng
Formatted abstract
Fryns syndrome is an autosomal recessive condition characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal digital hypoplasia, and other associated malformations, and is the most common syndromic form of CDH. No gene has been associated with this condition. Whole-exome sequence data from two siblings and three unrelated individuals with Fryns syndrome were filtered for rare, good quality, coding mutations fitting a recessive inheritance model. Compound heterozygous mutations in PIGN were identified in the siblings, with appropriate parental segregation: a novel STOP mutation (c.1966C>T: p.Glu656X) and a rare (minor allele frequency <0.001) donor splice site mutation (c.1674+1G>C) causing skipping of exon 18 and utilization of a cryptic acceptor site in exon 19. A further novel homozygous STOP mutation in PIGN (c.694A>T: p.Lys232X) was detected in one unrelated case. All three variants affected highly conserved bases. The two remaining cases were negative for PIGN mutations. Mutations in PIGN have been reported in cases with multiple congenital anomalies, including one case with syndromic CDH. Fryns syndrome can be caused by recessive mutations in PIGN. Whether PIGN affects other syndromic and non-syndromic forms of CDH warrants investigation
Keyword Diaphragmatic hernia
Fryns syndrome
Multiple congenital anomalies hypotonia seizures
Phosphatidylinositol Glycan Anchor Biosynthesis Class N
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 0 times in Thomson Reuters Web of Science Article
Scopus Citation Count Cited 0 times in Scopus Article
Google Scholar Search Google Scholar
Created: Tue, 24 May 2016, 03:26:32 EST by System User on behalf of Learning and Research Services (UQ Library)