Genetics of Atrial Septal Defect

Cascos, A Sánchez

doi:10.1136/adc.47.254.581

Cited by 14 publications

(2 citation statements)

References 47 publications

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“…Sex ratio in present cohort is 0.68, reflecting a relatively high incidence of ASDII among females. This ratio is very close to those previously reported, notably by Cascos et al ( 19 ) and Throne et al ( 20 ): 0.64 (p=0.88) and 0.5 (p=0.5), respectively. Rate of consanguineous marriage is relatively high, reflecting sociocultural specificities characterizing Moroccan life and community relations.…”

Section: Resultssupporting

confidence: 93%

NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population

et al. 2017

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Objective:Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother’s exposure to toxicity, ethnicity) and genetic causes. Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder.Methods:Thirty-two non-syndromic ASDII patients were screened for NKX2-5 variants using direct sequencing of polymerase chain reaction-amplified coding regions. Risk factor rates were compared to general population and assessed using Fisher’s exact and chi-square tests. In this retrospective study, criteria of exclusion were suggestive or confirmed syndrome association.Results:Three heterozygous variants were detected in 4 patients. NKX2-5 variant rate in present cohort is estimated to be about 9.4%. Two prominent risk factors in the Moroccan population were highlighted: consanguinity, rate of which was significantly high at 30.8%, and previous maternal miscarriage or sibling sudden death, observed in 34.6% of cohort.Conclusion:Impact of identified variants was discussed and possible disease-predisposing effect is suggested. Findings indicate that ASD may be favored by consanguineous marriage and that NKX2-5 variant rate in ASD patients may be affected by ethnicity. High level of maternal miscarriage and sibling sudden death suggests potential non-sporadic nature as result of putative genetic defect.

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Section: Resultssupporting

confidence: 93%

NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population

et al. 2017

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“…The review by Gonzalez et al (1977) reported only six families with 15 welldocumented male cases and 12 women with the female manifestation of the syndrome. The families reported by Summitt & Wilroy (1 974) and Cascos (1972) were omitted from their review because of the incomplete documentation of the cases. The hypertelorism in this series was defined on the basis of values of ocular measurements compared with the normal parameters.…”

Section: Discussionmentioning

confidence: 99%

The hypertelorism—hypospadias syndrome

Silva

1983

Clinical Genetics

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Further delineation of the Opitz G/BBB syndrome: Report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature

et al. 1998

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The combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy occurred in an infant with Opitz syndrome. Neither of these defects has previously been reported in association with Opitz syndrome. These malformations, which are midline defects, further characterize this syndrome as an impairment in midline development. The spectrum of congenital heart disease and genitourinary anomalies seen in Opitz syndrome is reviewed.

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Genetics of Atrial Septal Defect

Cited by 14 publications

References 47 publications

NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population

NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population

The hypertelorism—hypospadias syndrome

Further delineation of the Opitz G/BBB syndrome: Report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature

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