Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
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DOI：
10.1016/j.ejmg.2022.104519
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发表时间：
2022-06
影响因子：
1.9
通讯作者：
Stankiewicz, Pawe l
中科院分区：
文献类型：
--
作者：
Bolukbasi, Esra Yildiz;Karolak, Justyna A.;Gambin, Tomasz;Szafranski, Przemyslaw;Deutsch, Gail H.;Stankiewicz, Pawe l
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder in neonates due to heterozygous loss-of-function of the mesenchymal transcription factor gene, FOXF1. Interestingly, unlike ACDMPV-causing point mutations in FOXF1 that can be inherited from the mother or father, causative copy-number variant (CNV) deletions arise de novo and almost exclusively on chromosome 16 inherited from the mother (n=50 vs. n=3). Here, we describe a fourth case of a de novo paternal CNV deletion encompassing FOXF1, its neighboring long non-coding RNA gene FENDRR, and their distant lung-specific enhancer, identified in a 21-week-old fetus with tetralogy of Fallot, gastrointestinal and genitourinary abnormalities, a single umbilical artery, and patchy histopathological findings of ACDMPV in lung autopsy. We also review the ACDMPV-causative CNV deletions detected prenatally and propose that the majority of paternal deletions manifest with more severe additional non-lung abnormalities.
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影响因子：
7.7
作者：
Sauvageau M;Goff LA;Lodato S;Bonev B;Groff AF;Gerhardinger C;Sanchez-Gomez DB;Hacisuleyman E;Li E;Spence M;Liapis SC;Mallard W;Morse M;Swerdel MR;D'Ecclessis MF;Moore JC;Lai V;Gong G;Yancopoulos GD;Frendewey D;Kellis M;Hart RP;Valenzuela DM;Arlotta P;Rinn JL
通讯作者：
Rinn JL
影响因子：
3.9
作者：
Szafranski P;Gambin T;Karolak JA;Popek E;Stankiewicz P
通讯作者：
Stankiewicz P
影响因子：
2.7
作者：
Kalinichenko, VV;Lim, L;Costa, RH
通讯作者：
Costa, RH
DOI：
10.1164/rccm.201010-1697ci
发表时间：
2011-07-15
影响因子：
24.7
作者：
Bishop, Naomi B.;Stankiewicz, Pawel;Steinhorn, Robin H.
通讯作者：
Steinhorn, Robin H.
影响因子：
5.3
作者：
Szafranski P;Gambin T;Dharmadhikari AV;Akdemir KC;Jhangiani SN;Schuette J;Godiwala N;Yatsenko SA;Sebastian J;Madan-Khetarpal S;Surti U;Abellar RG;Bateman DA;Wilson AL;Markham MH;Slamon J;Santos-Simarro F;Palomares M;Nevado J;Lapunzina P;Chung BH;Wong WL;Chu YWY;Mok GTK;Kerem E;Reiter J;Ambalavanan N;Anderson SA;Kelly DR;Shieh J;Rosenthal TC;Scheible K;Steiner L;Iqbal MA;McKinnon ML;Hamilton SJ;Schlade-Bartusiak K;English D;Hendson G;Roeder ER;DeNapoli TS;Littlejohn RO;Wolff DJ;Wagner CL;Yeung A;Francis D;Fiorino EK;Edelman M;Fox J;Hayes DA;Janssens S;De Baere E;Menten B;Loccufier A;Vanwalleghem L;Moerman P;Sznajer Y;Lay AS;Kussmann JL;Chawla J;Payton DJ;Phillips GE;Brosens E;Tibboel D;de Klein A;Maystadt I;Fisher R;Sebire N;Male A;Chopra M;Pinner J;Malcolm G;Peters G;Arbuckle S;Lees M;Mead Z;Quarrell O;Sayers R;Owens M;Shaw-Smith C;Lioy J;McKay E;de Leeuw N;Feenstra I;Spruijt L;Elmslie F;Thiruchelvam T;Bacino CA;Langston C;Lupski JR;Sen P;Popek E;Stankiewicz P
通讯作者：
Stankiewicz P