Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Robinson, Susan W.; Morris, Cynthia D.; Goldmuntz, Elizabeth; Reller, Mark D.; Jones, Melanie A.; Steiner, Robert D.; Maslen, Cheryl L.

doi:10.1086/374319

Cited by 191 publications

(164 citation statements)

References 22 publications

Supporting

Mentioning

145

Contrasting

Unclassified

Order By: Relevance

“…24,25 Recently, mutations in the cell adhesion molecule CRELD1 and NKX2.5 also have been associated with heterotaxy. 26,27 However, only single patients with laterality defects were observed and the phenotypic consequences of gene defects in these loci therefore require further characterization.…”

Section: Discussionmentioning

confidence: 99%

Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene?

et al. 2004

View full text Add to dashboard Cite

The human ZIC3 gene has been mapped to Xq26.2, the visceral heterotaxy locus HTX1, and has been shown to be mutated in X-linked situs ambiguus and/or complex heart defects. We report on a female fetus with situs ambiguus, asplenia and corrected transposition of the great arteries, displaying a (X;21) translocation. The balanced state of the t(X;21)(q26;p13) was verified by FISH on metaphase chromosomes of the fetus using DOP-PCR products of the microdissected der(21) and Xq-subtelomere specific sequences, and by PRINS with b-satellite specific sequences. Examination with polymorphic markers flanking ZIC3 on DOP-PCR products of the microdissected der(21) chromosome evidenced that the complete copy of the ZIC3 gene was translocated to chromosome 21. Mutations in the fetal and parental ZIC3 genes were excluded by sequencing. Paternal origin of the der(X) and der(21) chromosomes was confirmed by use of polymorphic microsatellite markers from chromosome 21 and from the chromosomal region Xq26, respectively. X chromosome inactivation analysis using a PCR of a polymorphic (CAG) n repeat in the first exon of the androgen receptor gene showed a completely skewed X inactivation pattern with the paternal X as the active X chromosome, thus excluding functional disomy of distal Xq. A positional effect caused by the balanced (X;21) translocation may be responsible for functional nullisomy of ZIC3 and thus explain the situs and cardiac abnormalities in the fetus.

show abstract

Section: Discussionmentioning

confidence: 99%

Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene?

et al. 2004

View full text Add to dashboard Cite

show abstract

“…Matrix cellular proteins contain epidermal growth factor-like repeats, and are grouped in a class of cysteine-rich domains that mediate interactions between proteins of diverse functions. Mutation in CRELD1 genes, locating on chromosome 3p25 locus, represents a vital gene position for AVSD (Guo et al, 2010;Zatyka et al, 2005;Robinson et al, 2003).  EVC, EVC2; This gene encodes a protein containing a leucine zipper and a transmembrane domain.…”

Section: Single Gene Disordermentioning

confidence: 99%

Epidemiology and Etiology of Congenital Heart Diseases

Sayasathid¹,

Sukonpan²,

Somboonna³

2012

Congenital Heart Disease - Selected Aspects

View full text Add to dashboard Cite

“…CRELD2 was originally identified as a homolog of CRELD1 [12][13][14]. However, CRELD2 does not contain any putative transmembrane regions homologous to amino acid sequences of CRELD1.…”

Section: Resultsmentioning

confidence: 99%

Biosynthesis and secretion of mouse cysteine‐rich with EGF‐like domains 2

et al. 2011

View full text Add to dashboard Cite

Edited by Robert BaroukiKeywords: CRELD2 ER stress GRP78 Sar1 a b s t r a c tIn this study, we found that Cysteine-rich with EGF-like domains 2 (CRELD2), a novel endoplasmic reticulum stress-inducible protein, is not only localized in the ER-Golgi apparatus but also spontaneously secreted. Deletion of four C-terminal amino acids from mouse CRELD2 or addition of tagpeptides to its C-terminus dramatically enhanced CRELD2 secretion. Intra-and extra-cellular CRELD2 is differentially glycosylated and its spontaneous secretion was significantly prevented by overexpression of a dominant negative mutant Sar1 and treatment with brefeldin A. Overexpression of wild-type GRP78 remarkably enhanced the secretion of wild-type but not mutant CRELD2. Our results demonstrate both that CRELD2 is a novel secretory glycoprotein regulated by Sar1 and GRP78 and that the C-terminal of CRELD2 plays a crucial role in its secretion.

show abstract

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Cited by 191 publications

References 22 publications

Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene?

Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene?

Epidemiology and Etiology of Congenital Heart Diseases

Biosynthesis and secretion of mouse cysteine‐rich with EGF‐like domains 2

Contact Info

Product

Resources

About