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1.
Indian J Med Res ; 134(5): 621-6, 2011 Nov.
Article in English | MEDLINE | ID: mdl-22199100

ABSTRACT

BACKGROUND & OBJECTIVES: Cardiac malformations in the young constitute a major portion of clinically significant birth defects. Congenital heart disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1 per cent of all live births. Patent ductus arteriosus (PDA) is clinically significant foetal circulation anomaly, second most common form of CHD which constitutes approximately 10 per cent of total CHDs. The study aimed to screen for TFAP2B mutations in CHD patients of Mysore. METHODS: With informed consent, 100 clinically diagnosed CHD patients and 50 healthy controls in Mysore, south India, were recruited for the analysis of screening of mutations. MassARRAY analysis of 5 prominent mutations of TFAP2B was performed. RESULTS: The analysis did not show any of the five mutations of TFAP2B screened by massARRAY in patients and controls, indicating that these mutations were not involved in the manifestation of CHD in the patients at Mysore, south India. INTERPRETATION & CONCLUSIONS: The findings suggest the lack of involvement of known mutations of TFAP2B with syndromic or nonsyndromic CHDs in Mysore patients.


Subject(s)
Ductus Arteriosus, Patent/genetics , Heart Defects, Congenital/genetics , Heart Diseases/genetics , Mutation/genetics , Transcription Factor AP-2/genetics , Child , Child, Preschool , Female , Humans , India , Infant , Infant, Newborn , Male
2.
Indian J Hum Genet ; 16(3): 166-8, 2010 Sep.
Article in English | MEDLINE | ID: mdl-21206707

ABSTRACT

Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD) is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possible causes for this association could be pseudohermaphroditism, which in turn, may be due to congenital adrenal hyperplasia. The government of any country should consider providing for its people a free prenatal diagnosis for susceptible disorders.

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