Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH plus ) using DECIPHER data

被引：5

作者：

Hardcastle, Amy ^{[1
]}

Berry, Aliska M. ^{[2
]}

Campbell, Ian M. ^{[3
]}

Zhao, Xiaonan ^{[2
,4
]}

Liu, Pengfei ^{[2
,4
]}

Gerard, Amanda E. ^{[2
,5
]}

Rosenfeld, Jill A. ^{[2
]}

Sisoudiya, Saumya D. ^{[2
]}

Hernandez-Garcia, Andres ^{[2
]}

Loddo, Sara ^{[6
]}

Di Tommaso, Silvia ^{[6
]}

Novelli, Antonio ^{[6
]}

Dentici, Maria L. ^{[7
,8
]}

Capolino, Rossella ^{[7
,8
]}

Digilio, Maria C. ^{[7
,8
]}

Graziani, Ludovico ^{[8
,9
]}

Rustad, Cecilie F. ^{[10
]}

Neas, Katherine ^{[11
]}

Ferrero, Giovanni B. ^{[12
]}

Brusco, Alfredo ^{[13
,14
]}

Di Gregorio, Eleonora ^{[14
]}

Wellesley, Diana ^{[15
,16
]}

Beneteau, Claire ^{[17
]}

Joubert, Madeleine ^{[17
]}

Van den Bogaert, Kris ^{[18
]}

Boogaerts, Anneleen ^{[18
]}

McMullan, Dominic J. ^{[19
]}

Dean, John ^{[20
]}

Giuffrida, Maria G. ^{[21
]}

Bernardini, Laura ^{[21
]}

Varghese, Vinod ^{[22
]}

Shannon, Nora L. ^{[23
]}

Harrison, Rachel E. ^{[23
]}

Lam, Wayne W. K. ^{[24
]}

McKee, Shane ^{[25
]}

Turnpenny, Peter D. ^{[26
]}

Cole, Trevor ^{[27
]}

Morton, Jenny ^{[27
]}

Eason, Jacqueline ^{[23
]}

Jones, Marilyn C. ^{[28
,29
]}

Hall, Rebecca ^{[30
]}

Wright, Michael ^{[30
]}

Horridge, Karen ^{[31
]}

Shaw, Chad A. ^{[2
]}

Chung, Wendy K. ^{[32
,33
]}

Scott, Daryl A. ^{[2
,5
,34
]}

机构：

[1] Brigham Young Univ, Coll Life Sci, Dept Microbiol & Mol Biol, Provo, UT 84602 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, R813,One Baylor Plaza,BCM225, Houston, TX 77030 USA

[3] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

[4] Baylor Genet, Houston, TX USA

[5] Texas Childrens Hosp, Houston, TX 77030 USA

[6] IRCCS, Bambino Gesu Childrens Hosp, Translat Cytogen Res Unit, Rome, Italy

[7] IRCCS, Bambino Gesu Childrens Hosp, Med Genet Unit, Acad Dept Pediat, Rome, Italy

[8] IRCCS, Osped Pediatr Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy

[9] Tor Vergata Hosp, Med Genet Unit, Rome, Italy

[10] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway

[11] Genet Hlth Serv NZ, Wellington, New Zealand

[12] Univ Torino, Dept Clin & Biol Sci, Orbassano, Italy

[13] Univ Torino, Dept Med Sci, Turin, Italy

[14] Citta Salute & Sci Univ Hosp, Turin, Italy

[15] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[16] Univ Hosp Southampton, Southampton, Hants, England

[17] Nantes Univ, CHU Nantes, UF Foetopathol & Genet 9321, Nantes, France

[18] Univ Hosp Leuven KU Leuven, Ctr Human Genet, Leuven, Belgium

[19] Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Genet Lab, Birmingham, W Midlands, England

[20] NHS Grampian, Clin Genet Serv, Ashgrove House, Aberdeen, Scotland

[21] Fdn IRCCS Casa Sollievo Sofferenza, Med Genet Unit, San Giovanni Rotondo, Italy

[22] All Wales Med Genom Serv, Cardiff, Wales

[23] Nottingham Univ Hosp NHS Trust, Clin Genet Serv, Nottingham, England

[24] Western Gen Hosp, South East Scotland Clin Genet Serv, Edinburgh, Midlothian, Scotland

[25] Belfast City Hosp, Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland

[26] Royal Devon & Exeter Hosp, Clin Genet Dept, Exeter, Devon, England

[27] Birmingham Womens Hosp, Clin Genet Unit, Birmingham, W Midlands, England

[28] Univ Calif San Diego, San Diego, CA 92103 USA

[29] Rady Childrens Hosp, San Diego, CA USA

[30] Newcastle Upon Tyne Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England

[31] South Tyneside & Sunderland NHS Fdn Trust, Sunderland, England

[32] Columbia Univ, Dept Pediat, New York, NY 10027 USA

[33] Columbia Univ, Dept Med, New York, NY USA

[34] Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2022年 / 188卷 / 10期

关键词：

congenital diaphragmatic hernia; CREBBP; DECIPHER database; SMARCA4; UBA2; USP9X; COFFIN-SIRIS-SYNDROME; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY; MUTATIONS; VARIANTS; EXPRESSION; SMARCA4; FEMALE; GENES; USP9X;

D O I：

10.1002/ajmg.a.62919

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we used clinical and molecular data from 36 individuals with CDH+ who are cataloged in the DECIPHER database to identify genes that may play a role in diaphragm development and to discover new phenotypic expansions. Among this group, we identified individuals who carried putatively deleterious sequence or copy number variants affecting CREBBP, SMARCA4, UBA2, and USP9X. The role of these genes in diaphragm development was supported by their expression in the developing mouse diaphragm, their similarity to known CDH genes using data from a previously published and validated machine learning algorithm, and/or the presence of CDH in other individuals with their associated genetic disorders. Our results demonstrate how data from DECIPHER, and other public databases, can be used to identify new phenotypic expansions and suggest that CREBBP, SMARCA4, UBA2, and USP9X play a role in diaphragm development.

引用

页码：2958 / 2968

页数：11

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