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Gene Review:

CRELD1 - cysteine-rich with EGF-like domains 1

Homo sapiens

Synonyms: AVSD2, CIRRIN, Cysteine-rich with EGF-like domain protein 1, UNQ188/PRO214

Rupp, P.A. et al., Robinson, S.W. et al., Maslen, C.L. et al., Sarkozy, A. et al.

Maslen, Babcock, Robinson, Bean, Dooley, Willour, Sherman,

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Disease relevance of CRELD1

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome [1].

High impact information on CRELD1

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects [2].
Recently we identified and characterized the cell adhesion molecule CRELD1 (previously known as "cirrin") as a candidate gene for the AVSD2 locus mapping to chromosome 3p25 [2].
The CRELD1 gene is deleted in the human cytogenetic disorder 3p- syndrome and is in the region of loss of heterozygosity for several types of cancer [3].
The CRELD1 (Cysteine-Rich with EGF-Like Domains 1) gene (previously known as cirrin) was cloned from a human chromosome 3 BAC [3].
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects [4].

References

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Maslen, C.L., Babcock, D., Robinson, S.W., Bean, L.J., Dooley, K.J., Willour, V.L., Sherman, S.L. Am. J. Med. Genet. A (2006) [Pubmed]
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Robinson, S.W., Morris, C.D., Goldmuntz, E., Reller, M.D., Jones, M.A., Steiner, R.D., Maslen, C.L. Am. J. Hum. Genet. (2003) [Pubmed]
Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. Rupp, P.A., Fouad, G.T., Egelston, C.A., Reifsteck, C.A., Olson, S.B., Knosp, W.M., Glanville, R.W., Thornburg, K.L., Robinson, S.W., Maslen, C.L. Gene (2002) [Pubmed]
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects. Sarkozy, A., Esposito, G., Conti, E., Digilio, M.C., Marino, B., Calabrò, R., Pizzuti, A., Dallapiccola, B. Am. J. Med. Genet. A (2005) [Pubmed]

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