Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia

被引：14

作者：

Tang, Hui ^{[1
,2
]}

Zhang, Qin ^{[1
,2
]}

Xiang, Jingjing ^{[1
,2
]}

Yin, Linliang ^{[1
,2
]}

Wang, Jing ^{[3
]}

Wang, Ting ^{[1
,2
]}

机构：

[1] Nanjing Med Univ, Ctr Reprod & Genet, Affiliated Suzhou Hosp, Suzhou, Peoples R China

[2] Suzhou Municipal Hosp, Ctr Reprod & Genet, Suzhou, Peoples R China

[3] Suzhou Guangji Hosp, Suzhou, Peoples R China

来源：

FRONTIERS IN GENETICS | 2021年 / 12卷

关键词：

skeletal dysplasia; prenatal diagnosis; whole-exome sequencing; SNP-array; novel variants; PRENATAL-DIAGNOSIS; THANATOPHORIC DYSPLASIA; OSTEOGENESIS IMPERFECTA; MOLECULAR DIAGNOSIS; MEDICAL GENETICS; AMERICAN-COLLEGE; MUTATIONS; GUIDELINES; PHENOTYPES; DYSTROPHY;

D O I：

10.3389/fgene.2021.599863

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to make a molecular diagnosis rapidly. In this study, the genetic cause of 16 Chinese fetuses with skeletal dysplasia were analyzed, and 12 cases yielded positive results including one deletion in DMD gene detected by SNP-array and 14 variants in other 6 genes detected by whole exome sequencing (WES). In addition, somatic mosaicism was observed. Our study expanded the pathogenic variant spectrum and elucidated the utilization of WES in improving the diagnosis yield of skeletal dysplasia.

引用

页数：8

共 45 条

[1] Importance of complete phenotyping in prenatal whole exome sequencing [J].

Aarabi, Mahmoud ;

Sniezek, Olivia ;

Jiang, Huaiyang ;

Saller, Devereux N. ;

Bellissimo, Daniel ;

Yatsenko, Svetlana A. ;

Rajkovic, Aleksandar .

HUMAN GENETICS, 2018, 137 (02) :175-181

[2] Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia [J].

Arikawa-Hirasawa, E ;

Le, AH ;

Nishino, I ;

Nonaka, I ;

Ho, NC ;

Francomano, CA ;

Govindraj, P ;

Hassell, JR ;

Devaney, JM ;

Spranger, J ;

Stevenson, RE ;

Iannaccone, S ;

Dalakas, MC ;

Yamada, Y .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (05) :1368-1375

[3] Promises, pitfalls and practicalities of prenatal whole exome sequencing [J].

Best, Sunayna ;

Wou, Karen ;

Vora, Neeta ;

Van der Veyver, Ignatia B. ;

Wapner, Ronald ;

Chitty, Lyn S. .

PRENATAL DIAGNOSIS, 2018, 38 (01) :10-19

[4] A molecular and clinical study of Larsen syndrome caused by mutations in FLNB [J].

Bicknell, Louise S. ;

Farrington-Rock, Claire ;

Shafeghati, Yousef ;

Rump, Patrick ;

Alanay, Yasemin ;

Alembik, Yves ;

Al-Madani, Navid ;

Firth, Helen ;

Karimi-Nejad, Mohammad Hassan ;

Kim, Chong Ae ;

Leask, Kathryn ;

Maisenbacher, Melissa ;

Moran, Ellen ;

Pappas, John G. ;

Prontera, Paolo ;

de Ravel, Thomy ;

Fryns, Jean-Pierre ;

Sweeney, Elizabeth ;

Fryer, Alan ;

Unger, Sheila ;

Wilson, L. C. ;

Lachman, Ralph S. ;

Rimoin, David L. ;

Cohn, Daniel H. ;

Krakow, Deborah ;

Robertson, Stephen P. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (02) :89-98

[5] Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision [J].

Bonafe, Luisa ;

Cormier-Daire, Valerie ;

Hall, Christine ;

Lachman, Ralph ;

Mortier, Geert ;

Mundlos, Stefan ;

Nishimura, Gen ;

Sangiorgi, Luca ;

Savarirayan, Ravi ;

Sillence, David ;

Spranger, Juergen ;

Superti-Furga, Andrea ;

Warman, Matthew ;

Unger, Sheila .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (12) :2869-2892

[6] Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management [J].

Chandler, Natalie ;

Best, Sunayna ;

Hayward, Jane ;

Faravelli, Francesca ;

Mansour, Sahar ;

Kivuva, Emma ;

Tapon, Dagmar ;

Male, Alison ;

DeVile, Catherine ;

Chitty, Lyn S. .

GENETICS IN MEDICINE, 2018, 20 (11) :1430-1437

[7] Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia [J].

Chang, Kai-Chi ;

Lin, Po-Han ;

Su, Yi-Ning ;

Peng, Steven Shinn-Forng ;

Lee, Ni-Chung ;

Chou, Hung-Chieh ;

Chen, Chien-Yi ;

Hsieh, Wu-Shiun ;

Tsao, Po-Nien .

JOURNAL OF BONE AND MINERAL METABOLISM, 2012, 30 (01) :109-113

[8] Second-trimester molecular diagnosis of a heterozygous 742C → T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings [J].

Chen, CP ;

Chern, SR ;

Wang, W ;

Wang, TY .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2001, 17 (03) :272-273

[9]

COVONE AE, 1991, HUM GENET, V87, P353

[10] DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III [J].

Dagoneau, Nathalie ;

Goulet, Marie ;

Genevieve, David ;

Sznajer, Yves ;

Martinovic, Jelena ;

Smithson, Sarah ;

Huber, Celine ;

Baujat, Genevieve ;

Flori, Elisabeth ;

Tecco, Laura ;

Cavalcanti, Denise ;

Delezoide, Anne-Lise ;

Serre, Valerie ;

Le Merrer, Martine ;

Munnich, Arnold ;

Cormier-Daire, Valerie .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (05) :706-711

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