Abstract
Targeted disruption of the mouse activin receptor type IIB gene (Acvr2b) results in abnormal left-right (LR) axis development among Acvr2b(-/-) homozygotes [Oh and Li, 1997: Genes Dev 11:1812,1826]. The resulting malformations include atrial and ventricular septal defects, right-sided morphology of the left atrium and left lung, and spleen hypoplasia. Based on these results, we hypothesized that mutations in the type IIB activin receptor gene are associated with some cases of LR axis malformations in humans. We report here characterization of the ACVR2B genomic structure, analysis of ACVR2B splice variants, and screening for ACVR2B mutations among 112 sporadic and 14 familial cases of LR axis malformations. Two missense substitutions have been identified, one of which appears in two unrelated individuals. Neither of these nucleotide changes has been found in 200 control chromosomes. We conclude that ACVR2B mutations are present only rarely among human LR axis malformation cases.
| Original language | English |
|---|---|
| Pages (from-to) | 70-76 |
| Number of pages | 7 |
| Journal | American Journal of Medical Genetics |
| Volume | 82 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1999 Jan 1 |
| Externally published | Yes |
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Keywords
- ACVR2B; situs ambiguus; situs inversus; left-right axis
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. / Kosaki, Rika; Gebbia, Marinella; Kosaki, Kenjiro; Lewin, Mark; Bowers, Peter; Towbin, Jeffry A.; Casey, Brett.
In: American Journal of Medical Genetics, Vol. 82, No. 1, 01.01.1999, p. 70-76.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
AU - Kosaki, Rika
AU - Gebbia, Marinella
AU - Kosaki, Kenjiro
AU - Lewin, Mark
AU - Bowers, Peter
AU - Towbin, Jeffry A.
AU - Casey, Brett
PY - 1999/1/1
Y1 - 1999/1/1
N2 - Targeted disruption of the mouse activin receptor type IIB gene (Acvr2b) results in abnormal left-right (LR) axis development among Acvr2b(-/-) homozygotes [Oh and Li, 1997: Genes Dev 11:1812,1826]. The resulting malformations include atrial and ventricular septal defects, right-sided morphology of the left atrium and left lung, and spleen hypoplasia. Based on these results, we hypothesized that mutations in the type IIB activin receptor gene are associated with some cases of LR axis malformations in humans. We report here characterization of the ACVR2B genomic structure, analysis of ACVR2B splice variants, and screening for ACVR2B mutations among 112 sporadic and 14 familial cases of LR axis malformations. Two missense substitutions have been identified, one of which appears in two unrelated individuals. Neither of these nucleotide changes has been found in 200 control chromosomes. We conclude that ACVR2B mutations are present only rarely among human LR axis malformation cases.
AB - Targeted disruption of the mouse activin receptor type IIB gene (Acvr2b) results in abnormal left-right (LR) axis development among Acvr2b(-/-) homozygotes [Oh and Li, 1997: Genes Dev 11:1812,1826]. The resulting malformations include atrial and ventricular septal defects, right-sided morphology of the left atrium and left lung, and spleen hypoplasia. Based on these results, we hypothesized that mutations in the type IIB activin receptor gene are associated with some cases of LR axis malformations in humans. We report here characterization of the ACVR2B genomic structure, analysis of ACVR2B splice variants, and screening for ACVR2B mutations among 112 sporadic and 14 familial cases of LR axis malformations. Two missense substitutions have been identified, one of which appears in two unrelated individuals. Neither of these nucleotide changes has been found in 200 control chromosomes. We conclude that ACVR2B mutations are present only rarely among human LR axis malformation cases.
KW - ACVR2B; situs ambiguus; situs inversus; left-right axis
UR - http://www.scopus.com/inward/record.url?scp=0032919663&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032919663&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19990101)82:1<70::AID-AJMG14>3.0.CO;2-Y
DO - 10.1002/(SICI)1096-8628(19990101)82:1<70::AID-AJMG14>3.0.CO;2-Y
M3 - Article
C2 - 9916847
AN - SCOPUS:0032919663
VL - 82
SP - 70
EP - 76
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4868
IS - 1
ER -