A novel missense variant inCHD7, a rare cause of CHARGE syndrome

被引：0

作者：

Joslyn, Peter ^{[1
]}

Meddaugh, Hannah ^{[2
]}

Torres, Jairo ^{[3
]}

Patrick-Esteve, Jessica ^{[1
]}

Olister, Staci ^{[1
]}

Mumphrey, Christy ^{[1
]}

Zambrano, Regina ^{[4
]}

机构：

[1] Louisiana State Univ, Dept Pediat, Div Neonatol, Hlth Sci Ctr New Orleans, New Orleans, LA 70118 USA

[2] Louisiana State Univ, Hlth Sci Ctr New Orleans, Childrens Hosp New Orleans, Dept Genet, New Orleans, LA 70118 USA

[3] Louisiana State Univ, Dept Otolaryngol, Hlth Sci Ctr New Orleans, New Orleans, LA 70118 USA

[4] Louisiana State Univ, Dept Pediat, Div Genet, Hlth Sci Ctr New Orleans, 200 Henry Clay Ave, New Orleans, LA 70118 USA

来源：

CLINICAL DYSMORPHOLOGY | 2020年 / 29卷 / 03期

关键词：

CHOANAL ATRESIA; MUTATIONS; SPECTRUM; UPDATE;

D O I：

10.1097/MCD.0000000000000315

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：158 / 160

页数：3

共 11 条

[1] CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype [J].

Bergman, J. E. H. ;

Janssen, N. ;

Hoefsloot, L. H. ;

Jongmans, M. C. J. ;

Hofstra, R. M. W. ;

van Ravenswaaij-Arts, C. M. A. .

JOURNAL OF MEDICAL GENETICS, 2011, 48 (05) :334-342

[2] CHARGE association: An update and review for the primary pediatrician [J].

Blake, KD ;

Davenport, SLH ;

Hall, BD ;

Hefner, MA ;

Pagon, RA ;

Williams, MS ;

Lin, AE ;

Graham, JM .

CLINICAL PEDIATRICS, 1998, 37 (03) :159-173

[3] Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria [J].

Hale, Caitlin L. ;

Niederriter, Adrienne N. ;

Green, Glenn E. ;

Martin, Donna M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (02) :344-354

[4] CHOANAL ATRESIA AND ASSOCIATED MULTIPLE ANOMALIES [J].

HALL, BD .

JOURNAL OF PEDIATRICS, 1979, 95 (03) :395-398

[5] An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study [J].

Issekutz, KA ;

Graham, JM ;

Prasad, C ;

Smith, IM ;

Blake, KD .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 133A (03) :309-317

[6] Mutation update on the CHD7 gene involved in CHARGE syndrome [J].

Janssen, Nicole ;

Bergman, Jorieke E. H. ;

Swertz, Morris A. ;

Tranebjaerg, Lisbeth ;

Lodahl, Marianne ;

Schoots, Jeroen ;

Hofstra, Robert M. W. ;

van Ravenswaaij-Arts, Conny M. A. ;

Hoefsloot, Lies H. .

HUMAN MUTATION, 2012, 33 (08) :1149-1160

[7] CHARGE syndrome:: the phenotypic spectrum of mutations in the CHD7 gene [J].

Jongmans, MCJ ;

Admiraal, RJ ;

van der Donk, KP ;

Vissers, LELM ;

Baas, AF ;

Kapusta, L ;

van Hagen, JM ;

Donnai, D ;

de Ravel, TJ ;

Veltman, JA ;

van Kessel, AG ;

De Vries, BBA ;

Brunner, HG ;

Hoefsloot, LH ;

van Ravenswaaij, CMA .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (04) :306-314

[8] Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation [J].

Lalani, SR ;

Safiullah, AM ;

Fernbach, SD ;

Harutyunyan, KG ;

Thaller, C ;

Peterson, LE ;

McPherson, JD ;

Gibbs, RA ;

White, LD ;

Hefner, M ;

Davenport, SLH ;

Graham, JM ;

Bacino, CA ;

Glass, NL ;

Towbin, JA ;

Craigen, WJ ;

Neish, SR ;

Lin, AE ;

Belmont, JW .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (02) :303-314

[9] COLOBOMA, CONGENITAL HEART-DISEASE, AND CHOANAL ATRESIA WITH MULTIPLE ANOMALIES - CHARGE ASSOCIATION [J].

PAGON, RA ;

GRAHAM, JM ;

ZONANA, J ;

YONG, SL .

JOURNAL OF PEDIATRICS, 1981, 99 (02) :223-227

[10] Updated diagnostic criteria for CHARGE syndrome: A proposal [J].

Verloes, A .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 133A (03) :306-308

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