BACKGROUND: Isolated esophageal atresia (EA) is a rare congenital malformation whose etiology remains largely unknown. Nine twin pairs with EA were identified from our clinical service, prompting the performance of a systematic review of the literature and the first reported twin study of isolated EA. METHODS: A total of 330 twin pairs with EA were identified from the literature. The zygosity, concordance, and malformation (isolated vs. nonisolated) status of all 339 twin pairs were evaluated. A total of 72 twin pairs (4 of 9 / 68 of 330) fulfilled the criteria for inclusion in a classic twin study of isolated EA. RESULTS: The pairwise concordance rates were 50% (95% confidence interval [CI], 34-66%) for monozygous (MZ) twin pairs and 26% (95% CI, 15-42%) for dizygous (DZ) twin pairs (p = 0.033). The probandwise concordance rates were 67% (95% CI, 53-78%) for MZ twin pairs and 42% (95% CI, 29-56%) for DZ twin pairs (p = 0.011). The MZ/DZ ratios were 1.9 for pairwise analysis and 1.6 for probandwise analysis. The familial risk ratios for MZ and DZ twin pairs were 1700 and 900, respectively. CONCLUSION: The observation of higher concordance rates for MZ compared to DZ twin pairs indicates that genetic factors contribute to isolated EA.
BACKGROUND: Isolated esophageal atresia (EA) is a rare congenital malformation whose etiology remains largely unknown. Nine twin pairs with EA were identified from our clinical service, prompting the performance of a systematic review of the literature and the first reported twin study of isolated EA. METHODS: A total of 330 twin pairs with EA were identified from the literature. The zygosity, concordance, and malformation (isolated vs. nonisolated) status of all 339 twin pairs were evaluated. A total of 72 twin pairs (4 of 9 / 68 of 330) fulfilled the criteria for inclusion in a classic twin study of isolated EA. RESULTS: The pairwise concordance rates were 50% (95% confidence interval [CI], 34-66%) for monozygous (MZ) twin pairs and 26% (95% CI, 15-42%) for dizygous (DZ) twin pairs (p = 0.033). The probandwise concordance rates were 67% (95% CI, 53-78%) for MZ twin pairs and 42% (95% CI, 29-56%) for DZ twin pairs (p = 0.011). The MZ/DZ ratios were 1.9 for pairwise analysis and 1.6 for probandwise analysis. The familial risk ratios for MZ and DZ twin pairs were 1700 and 900, respectively. CONCLUSION: The observation of higher concordance rates for MZ compared to DZ twin pairs indicates that genetic factors contribute to isolated EA.
Authors: Erwin Brosens; Florian Marsch; Elisabeth M de Jong; Hitisha P Zaveri; Alina C Hilger; Vera Gisela Choinitzki; Alice Hölscher; Per Hoffmann; Stefan Herms; Thomas M Boemers; Benno M Ure; Martin Lacher; Michael Ludwig; Bert H Eussen; Robert M van der Helm; Hannie Douben; Diane Van Opstal; Rene M H Wijnen; H Berna Beverloo; Yolande van Bever; Alice S Brooks; Hanneke IJsselstijn; Daryl A Scott; Johannes Schumacher; Dick Tibboel; Heiko Reutter; Annelies de Klein Journal: Eur J Hum Genet Date: 2016-07-20 Impact factor: 4.246
Authors: Nicole A Edwards; Vered Shacham-Silverberg; Leelah Weitz; Paul S Kingma; Yufeng Shen; James M Wells; Wendy K Chung; Aaron M Zorn Journal: Dev Biol Date: 2021-05-21 Impact factor: 3.582
Authors: Erwin Brosens; Rutger W W Brouwer; Hannie Douben; Yolande van Bever; Alice S Brooks; Rene M H Wijnen; Wilfred F J van IJcken; Dick Tibboel; Robbert J Rottier; Annelies de Klein Journal: Genes (Basel) Date: 2021-10-10 Impact factor: 4.096
Authors: Erwin Brosens; Janine F Felix; Anne Boerema-de Munck; Elisabeth M de Jong; Elisabeth M Lodder; Sigrid Swagemakers; Marjon Buscop-van Kempen; Ronald R de Krijger; Rene M H Wijnen; Wilfred F J van IJcken; Peter van der Spek; Annelies de Klein; Dick Tibboel; Robbert J Rottier Journal: PLoS One Date: 2020-11-17 Impact factor: 3.240