Медицинская библиотека · Human genetics · 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski Przemyslaw, Gambin Tomasz, Dharmadhikari Avinash V, Akdemir Kadir Caner, Jhangiani Shalini N, Schuette Jennifer, Godiwala Nihal, Yatsenko Svetlana A, Sebastian Jessica, Madan-Khetarpal Suneeta, Surti Urvashi, Abellar Rosanna G, Bateman David A, Wilson Ashley L, Markham Melinda H, Slamon Jill, Santos-Simarro Fernando, Palomares María, Nevado Julián, Lapunzina Pablo, Chung Brian Hon-Yin, Wong Wai-Lap, Chu Yoyo Wing Yiu, Mok Gary Tsz Kin, Kerem Eitan, Reiter Joel, Ambalavanan Namasivayam, Anderson Scott A, Kelly David R, Shieh Joseph, Rosenthal Taryn C, Scheible Kristin, Steiner Laurie, Iqbal M Anwar, McKinnon Margaret L, Hamilton Sara Jane, Schlade-Bartusiak Kamilla, English Dawn, Hendson Glenda, Roeder Elizabeth R, DeNapoli Thomas S, Littlejohn Rebecca Okashah, Wolff Daynna J, Wagner Carol L, Yeung Alison, Francis David, Fiorino Elizabeth K, Edelman Morris, Fox Joyce, Hayes Denise A, Janssens Sandra, De Baere Elfride, Menten Björn, Loccufier Anne, Vanwalleghem Lieve, Moerman Philippe, Sznajer Yves, Lay Amy S, Kussmann Jennifer L, Chawla Jasneek, Payton Diane J, Phillips Gael E, Brosens Erwin, Tibboel Dick, de Klein Annelies, Maystadt Isabelle, Fisher Richard, Sebire Neil, Male Alison, Chopra Maya, Pinner Jason, Malcolm Girvan, Peters Gregory, Arbuckle Susan, Lees Melissa, Mead Zoe, Quarrell Oliver, Sayers Richard, Owens Martina, Shaw-Smith Charles, Lioy Janet, McKay Eileen, de Leeuw Nicole, Feenstra Ilse, Spruijt Liesbeth, Elmslie Frances, Thiruchelvam Timothy, Bacino Carlos A, Langston Claire, Lupski James R, Sen Partha, Popek Edwina, Stankiewicz Paweł

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV.

Для цитирования: Szafranski Przemyslaw, Gambin Tomasz, Dharmadhikari Avinash V, Akdemir Kadir Caner, Jhangiani Shalini N, Schuette Jennifer, Godiwala Nihal, Yatsenko Svetlana A, Sebastian Jessica, Madan-Khetarpal Suneeta, Surti Urvashi, Abellar Rosanna G, Bateman David A, Wilson Ashley L, Markham Melinda H, Slamon Jill, Santos-Simarro Fernando, Palomares María, Nevado Julián, Lapunzina Pablo, Chung Brian Hon-Yin, Wong Wai-Lap, Chu Yoyo Wing Yiu, Mok Gary Tsz Kin, Kerem Eitan, Reiter Joel, Ambalavanan Namasivayam, Anderson Scott A, Kelly David R, Shieh Joseph, Rosenthal Taryn C, Scheible Kristin, Steiner Laurie, Iqbal M Anwar, McKinnon Margaret L, Hamilton Sara Jane, Schlade-Bartusiak Kamilla, English Dawn, Hendson Glenda, Roeder Elizabeth R, DeNapoli Thomas S, Littlejohn Rebecca Okashah, Wolff Daynna J, Wagner Carol L, Yeung Alison, Francis David, Fiorino Elizabeth K, Edelman Morris, Fox Joyce, Hayes Denise A, Janssens Sandra, De Baere Elfride, Menten Björn, Loccufier Anne, Vanwalleghem Lieve, Moerman Philippe, Sznajer Yves, Lay Amy S, Kussmann Jennifer L, Chawla Jasneek, Payton Diane J, Phillips Gael E, Brosens Erwin, Tibboel Dick, de Klein Annelies, Maystadt Isabelle, Fisher Richard, Sebire Neil, Male Alison, Chopra Maya, Pinner Jason, Malcolm Girvan, Peters Gregory, Arbuckle Susan, Lees Melissa, Mead Zoe, Quarrell Oliver, Sayers Richard, Owens Martina, Shaw-Smith Charles, Lioy Janet, McKay Eileen, de Leeuw Nicole, Feenstra Ilse, Spruijt Liesbeth, Elmslie Frances, Thiruchelvam Timothy, Bacino Carlos A, Langston Claire, Lupski James R, Sen Partha, Popek Edwina, Stankiewicz Paweł. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.. Human genetics. 2016. DOI: 10.1007/s00439-016-1655-9.

Предметные рубрики MeSH

Chromosomes, Human, Pair 16 Comparative Genomic Hybridization Female Forkhead Transcription Factors Genes, Lethal Genome, Human Genomic Imprinting High-Throughput Nucleotide Sequencing Humans Infant, Newborn Male Pedigree Persistent Fetal Circulation Syndrome Pulmonary Alveoli Pulmonary Veins Sequence Deletion

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