Abstract：
BACKGROUND:Holt-Oram syndrome is characterised by CHD and limb anomalies. Mutations in TBX5 gene, encoding the T-box transcription factor, are responsible for the development of Holt-Oram syndrome, but such mutations are variably detected in 30-75% of patients. METHODS:Clinically diagnosed eight Holt-Oram syndrome patients from six families were evaluated the clinical characteristics, focusing on the cardiac manifestations, in particular, and molecular aetiologies. In addition to the investigation of the mutation of TBX5, SALL4, NKX2.5, and GATA4 genes, which are known to regulate cardiac development by physically and functionally interacting with TBX5, were also analyzed. Multiple ligation-dependent probe amplification analysis was performed to detect exonic deletion and duplication mutations in these genes. RESULTS:All included patients showed cardiac septal defects and upper-limb anomalies. Of the eight patients, seven underwent cardiac surgery, and four suffered from conduction abnormalities such as severe sinus bradycardia and complete atrioventricular block. Although our patients showed typical clinical findings of Holt-Oram syndrome, only three distinct TBX5 mutations were detected in three families: one nonsense, one splicing, and one missense mutation. No new mutations were identified by testing SALL4, NKX2.5, and GATA4 genes. CONCLUSIONS:All Holt-Oram syndrome patients in this study showed cardiac septal anomalies. Half of them showed TBX5 gene mutations. To understand the genetic causes for inherited CHD such as Holt-Oram syndrome is helpful to take care of the patients and their families. Further efforts with large-scale genomic research are required to identify genes responsible for cardiac manifestations or genotype-phenotype relation in Holt-Oram syndrome.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Jhang WK,Lee BH,Kim GH,Lee JO,Yoo HWdoi
10.1017/S1047951114001656subject
Has Abstractpub_date
2015-08-01 00:00:00pages
1093-8issue
6eissn
1047-9511issn
1467-1107pii
S1047951114001656journal_volume
25pub_type
杂志文章abstract：OBJECTIVE:We aimed to apply systems engineering principles to address hospital-acquired infections in the paediatric intensive care setting. DESIGN:Mixed method approach involving four steps: perform time-motion study of cardiac intensive care unit (CICU) care processes, establish a meaningful schema to classify obser...
journal_title：Cardiology in the young
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abstract：:Mitral valve aneurysm not associated with infective endocarditis is rarely reported in children. We report a case of perforated posterior mitral leaflet aneurysm in an infant with reference to surgical and histopathological findings. Although its aetiology remains unclear, we suggest to include mitral valve aneurysm i...
journal_title：Cardiology in the young
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journal_title：Cardiology in the young
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journal_title：Cardiology in the young
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journal_title：Cardiology in the young
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doi：10.1017/S1047951110001010
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journal_title：Cardiology in the young
pub_type： 杂志文章,评审
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journal_title：Cardiology in the young
pub_type： 杂志文章,多中心研究
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journal_title：Cardiology in the young
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doi：10.1017/S1047951113001224
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journal_title：Cardiology in the young
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doi：10.1017/S1047951109990928
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journal_title：Cardiology in the young
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doi：10.1017/S1047951115001079
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journal_title：Cardiology in the young
pub_type： 杂志文章
doi：10.1017/S1047951115001936
更新日期：2016-04-01 00:00:00
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journal_title：Cardiology in the young
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doi：10.1017/S104795110700159X
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doi：10.1017/S1047951120000931
更新日期：2020-06-01 00:00:00
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journal_title：Cardiology in the young
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doi：10.1017/S1047951117000890
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journal_title：Cardiology in the young
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doi：10.1017/S1047951111000023
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journal_title：Cardiology in the young
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journal_title：Cardiology in the young
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journal_title：Cardiology in the young
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journal_title：Cardiology in the young
pub_type： 杂志文章,评审
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journal_title：Cardiology in the young
pub_type： 杂志文章,评审
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journal_title：Cardiology in the young
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更新日期：2010-04-01 00:00:00
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journal_title：Cardiology in the young
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journal_title：Cardiology in the young
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更新日期：2019-09-01 00:00:00
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journal_title：Cardiology in the young
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