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A human laterality disorder associated with recessive CCDC11 mutation
Year:
2012
Source of publication :
Journal of Medical Genetics
Authors :
Cinnamon, Yuval
;
.
Volume :
49
Co-Authors:
Perles, Z., Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Cinnamon, Y., Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Ta-Shma, A., Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Shaag, A., Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Einbinder, T., Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Rein, A.J.J.T., Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Elpeleg, O., Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Facilitators :
From page:
386
To page:
390
(
Total pages:
5
)
Abstract:
Background Significant advancements in understanding the molecular pathophysiology of laterality determination were recently made. However, there are large gaps in our knowledge of the initial processes that lead to laterality defects, such as heterotaxy syndrome (HS, also known as situs ambiguous) and situs inversus totalis (SIT). The former refers to abnormal distribution of visceral organs, and the latter refers to a complete laterality inversion of both abdominal and thoracic viscera. Methods In order to identify a mutated gene in SIT and HS patients, the authors performed homozygosity mapping in a consanguineous family with laterality disorders identified in two siblings. Results A homozygous deleterious mutation in the CCDC11 gene was identified in the patients. The mutation resulted in an abnormally smaller protein in the patient's skin fibroblasts. The parents and five healthy siblings were heterozygous for the mutation, which was not present in 112 anonymous controls. Conclusions Few genes have been associated with both SIT and HS, usually accompanied by other abnormalities. The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member. This report underscores the importance of CCDC11 in laterality determination.
Note:
Related Files :
chromosome mapping
gene mapping
Male
mutation
phenotype
RNA
sibling
Show More
Related Content
More details
DOI :
10.1136/jmedgenet-2011-100457
Article number:
Affiliations:
Database:
Scopus
Publication Type:
article
;
.
Language:
English
Editors' remarks:
ID:
28886
Last updated date:
02/03/2022 17:27
Creation date:
17/04/2018 00:42
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Scientific Publication
A human laterality disorder associated with recessive CCDC11 mutation
49
Perles, Z., Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Cinnamon, Y., Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Ta-Shma, A., Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Shaag, A., Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Einbinder, T., Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Rein, A.J.J.T., Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Elpeleg, O., Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
A human laterality disorder associated with recessive CCDC11 mutation
Background Significant advancements in understanding the molecular pathophysiology of laterality determination were recently made. However, there are large gaps in our knowledge of the initial processes that lead to laterality defects, such as heterotaxy syndrome (HS, also known as situs ambiguous) and situs inversus totalis (SIT). The former refers to abnormal distribution of visceral organs, and the latter refers to a complete laterality inversion of both abdominal and thoracic viscera. Methods In order to identify a mutated gene in SIT and HS patients, the authors performed homozygosity mapping in a consanguineous family with laterality disorders identified in two siblings. Results A homozygous deleterious mutation in the CCDC11 gene was identified in the patients. The mutation resulted in an abnormally smaller protein in the patient's skin fibroblasts. The parents and five healthy siblings were heterozygous for the mutation, which was not present in 112 anonymous controls. Conclusions Few genes have been associated with both SIT and HS, usually accompanied by other abnormalities. The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member. This report underscores the importance of CCDC11 in laterality determination.
Scientific Publication
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