Genetics of Short Stature

被引：38

作者：

Jee, Youn Hee ^{[1
]}

Andrade, Anenisia C. ^{[2
]}

Baron, Jeffrey ^{[1
]}

Nilsson, Ola ^{[2
,3
]}

机构：

[1] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Program Dev Endocrinol & Genet, NIH, CRC, Room 1-3330,10 Ctr Dr MSC 1103, Bethesda, MD 20892 USA

[2] Karolinska Inst, Karolinska Univ Hosp, Dept Womens & Childrens Hlth, Div Pediat Endocrinol, S-17177 Solna, Sweden

[3] Orebro Univ, Univ Hosp, S-70185 Orebro, Sweden

来源：

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2017年 / 46卷 / 02期

基金：

瑞典研究理事会;

关键词：

Short stature; Genetic causes; Growth plate; Genome-wide association study; Exome sequencing; MULTIPLE EPIPHYSEAL DYSPLASIA; FLOATING-HARBOR SYNDROME; GILFORD PROGERIA SYNDROME; DOMINANT ROBINOW SYNDROME; GROWTH-FACTOR RECEPTOR-3; AARSKOG-SCOTT-SYNDROME; COFFIN-SIRIS SYNDROME; BRACHYDACTYLY TYPE A2; DE-LANGE-SYNDROME; PRIMORDIAL DWARFISM;

D O I：

10.1016/j.ecl.2017.01.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of the underlying molecular mechanisms of longitudinal bone growth and growth failure. Identifying new genetic causes of growth disorders has the potential to improve diagnosis, prognostic accuracy, and individualized management, and help avoid unnecessary testing for endocrine and other disorders.

引用

页码：259 / +

页数：24

共 151 条

[111] Identification of the First ATRIP-Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome [J].

Ogi, Tomoo ;

Walker, Sarah ;

Stiff, Tom ;

Hobson, Emma ;

Limsirichaikul, Siripan ;

Carpenter, Gillian ;

Prescott, Katrina ;

Suri, Mohnish ;

Byrd, Philip J. ;

Matsuse, Michiko ;

Mitsutake, Norisato ;

Nakazawa, Yuka ;

Vasudevan, Pradeep ;

Barrow, Margaret ;

Stewart, Grant S. ;

Taylor, A. Malcolm R. ;

O'Driscoll, Mark ;

Jeggo, Penny A. .

PLOS GENETICS, 2012, 8 (11)

[112] Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature [J].

Olney, RC ;

Bükülmez, H ;

Bartels, CF ;

Prickett, TCR ;

Espiner, EA ;

Potter, LR ;

Warman, ML .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (04) :1229-1232

[113] Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients [J].

Orrico, A ;

Galli, L ;

Cavaliere, ML ;

Garavelli, L ;

Fryns, JP ;

Crushell, E ;

Rinaldi, MM ;

Medeira, A ;

Sorrentino, V .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (01) :16-23

[114] COL9A3:: A third locus for multiple epiphyseal dysplasia [J].

Paassilta, P ;

Lohiniva, J ;

Annunen, S ;

Bonaventure, J ;

Le Merrer, M ;

Pai, L ;

Ala-Kokko, L .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) :1036-1044

[115] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy [J].

Pandit, Bhaswati ;

Sarkozy, Anna ;

Pennacchio, Len A. ;

Carta, Claudio ;

Oishi, Kimihiko ;

Martinelli, Simone ;

Pogna, Edgar A. ;

Schackwitz, Wendy ;

Ustaszewska, Anna ;

Landstrom, Andrew ;

Bos, J. Martijn ;

Ommen, Steve R. ;

Esposito, Giorgia ;

Lepri, Francesca ;

Faul, Christian ;

Mundel, Peter ;

Siguero, Juan P. Lopez ;

Tenconi, Romano ;

Selicorni, Angelo ;

Rossi, Cesare ;

Mazzanti, Laura ;

Torrente, Isabella ;

Marino, Bruno ;

Digilio, Maria C. ;

Zampino, Giuseppe ;

Ackerman, Michael J. ;

Dallapiccola, Bruno ;

Tartaglia, Marco ;

Gelb, Bruce D. .

NATURE GENETICS, 2007, 39 (08) :1007-1012

[116]

PASTERIS NG, 1994, CELL, V79, P669

[117] Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome [J].

Pastorczak, Agata ;

Szczepanski, Tomasz ;

Mlynarski, Wojciech .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2016, 59 (03) :126-132

[118] Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance [J].

Payne, Felicity ;

Colnaghi, Rita ;

Rocha, Nuno ;

Seth, Asha ;

Harris, Julie ;

Carpenter, Gillian ;

Bottomley, William E. ;

Wheeler, Eleanor ;

Wong, Stephen ;

Saudek, Vladimir ;

Savage, David ;

O'Rahilly, Stephen ;

Carel, Jean-Claude ;

Barroso, Ines ;

O'Driscoll, Mark ;

Semple, Robert .

JOURNAL OF CLINICAL INVESTIGATION, 2014, 124 (09) :4028-4038

[119] Brachydactyly E: isolated or as a feature of a syndrome [J].

Pereda, Arrate ;

Garin, Intza ;

Garcia-Barcina, Maria ;

Gener, Blanca ;

Beristain, Elena ;

Miren Ibanez, Ane ;

Perez de Nanclares, Guiomar .

ORPHANET JOURNAL OF RARE DISEASES, 2013, 8

[120] WNT5A Mutations in Patients With Autosomal Dominant Robinow Syndrome [J].

Person, Anthony D. ;

Beiraghi, Soraya ;

Sieben, Christine M. ;

Hermanson, Spencer ;

Neumann, Ann N. ;

Robu, Mara E. ;

Schleiffarth, J. Robert ;

Billington, Charles J., Jr. ;

van Bokhoven, Hans ;

Hoogeboom, Jeannette M. ;

Mazzeu, Juliana F. ;

Petryk, Anna ;

Schimmenti, Lisa A. ;

Brunner, Han G. ;

Ekker, Stephen C. ;

Lohr, Jamie L. .

DEVELOPMENTAL DYNAMICS, 2010, 239 (01) :327-337

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