Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome

The Journal of Clinical Endocrinology and Metabolism
Rie YoshidaTsutomu Ogata

Abstract

We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Sequence analysis was performed for all of the coding exons 1-15 of PTPN11, revealing a novel 3-bp deletion mutation and 10 recurrent missense mutations in 18 patients. Clinical assessment showed that 1) the growth pattern was similar in mutation-positive and mutation-negative patients, with no significant difference in birth length [-0.6 +/- 2.2 sd (n = 10) vs. -0.6 +/- 1.4 sd (n = 21); P = 0.95], childhood height [-2.6 +/- 1.1 sd (n = 14) vs. -2.1 +/- 1.6 sd (n = 23); P = 0.28], or target height [-0.4 +/- 0.9 sd (n = 14) vs. -0.2 +/- 0.7 sd (n = 17); P = 0.52]; 2) pulmonary valve stenosis was more frequent in mutation-positive patients than in mutation-negative patients (10 of 18 vs. 6 of 27; P = 0.02), as was atrial septal defect (10 of 18 vs. 4 of 27; P = 0.005), whereas hypertrophic cardiomyopathy was present in five mutation-negative patients only; and 3) other features were grossly similar in the prevalence between mutation-positive and mutation-negative patients, but hematological abnormalities, such as bleeding diathesis and juvenile myelomonocytic leukemia, were exclusi...Continue Reading

References

Feb 1, 1992·Archives of Disease in Childhood·M SharlandM A Paton
Dec 1, 1988·European Journal of Pediatrics·M B RankeJ R Bierich
Jul 1, 1985·American Journal of Medical Genetics·H M Mendez, J M Opitz
Jul 1, 1985·American Journal of Medical Genetics·J E AllansonR D Witt
Dec 1, 1970·Archives of Disease in Childhood·J M TannerR H Whitehouse
Mar 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·S AhmadS H Shen
Nov 1, 1994·American Journal of Medical Genetics·I van der BurgtE Mariman
Mar 1, 1997·Journal of Pediatric Hematology/oncology·M FukudaM Nagashima
May 1, 1997·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·J A Frearson, D R Alexander
Jun 1, 1997·The Journal of Pediatrics·B Bader-MeunierJ P Dommergues
Jul 1, 1997·Journal of Medical Genetics·B D Coppin, I K Temple
Mar 10, 1998·Cell·P HofS E Shoelson
Dec 2, 1999·Experimental Cell Research·G S Feng
Dec 22, 1999·Journal of Pediatric Hematology/oncology·K ChoongA Zipursky
Feb 13, 2001·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·P CohenR G Rosenfeld
Jun 12, 2002·American Journal of Human Genetics·Maria Cristina DigilioBruno Dallapiccola
Aug 6, 2002·The Journal of Clinical Endocrinology and Metabolism·Kenjiro KosakiTsutomu Ogata
Aug 6, 2002·Journal of Medical Genetics·E LegiusJ-P Fryns
Dec 7, 2002·Journal of Pediatric Hematology/oncology·Ferraris SilvioMiniero Roberto
Jan 17, 2003·European Journal of Human Genetics : EJHG·Els SchollenEric Legius
Dec 3, 2003·Blood·Mignon L LohKevin M Shannon

❮ Previous
Next ❯

Citations

Oct 6, 2006·Genetic Testing·Débora R BertolaJosé Eduardo Krieger
Jun 29, 2010·Genetic Testing and Molecular Biomarkers·Amanda Salem BrasilDébora Romeo Bertola
May 25, 2007·Stem Cells and Development·Kenneth D McMilin, Susmita Dasgupta
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Marco Tartaglia, Bruce D Gelb
Jun 29, 2006·Hormone Research·Sophia Kitsiou-TzeliPolyxeni Nicolaidou
Feb 19, 2014·Archives of Disease in Childhood·Terence W PrendivilleRonald V Lacro
Oct 1, 2005·Leukemia & Lymphoma·Carmen BergomPeter J Newman
Jan 13, 2016·Proceedings of the National Academy of Sciences of the United States of America·Xia LiuCheng-Kui Qu
Jan 15, 2013·Lancet·Amy E RobertsBruce D Gelb
Jun 12, 2012·Trends in Cardiovascular Medicine·Jessica Lauriol, Maria I Kontaridis
May 13, 2008·Human Mutation·Yoko AokiYoichi Matsubara
Apr 18, 2009·Pediatrics International : Official Journal of the Japan Pediatric Society·Muneichiro SumiHiroyuki Moriuchi
Mar 12, 2008·Clinical Endocrinology·Lize V FerreiraAlexander A L Jorge
Oct 19, 2010·American Journal of Medical Genetics. Part a·Murat DerbentNamik Özbek
Oct 5, 2010·International Journal of Dermatology·Harunosuke KatoKotaro Yoshimura
Oct 21, 2011·Pediatric Blood & Cancer·Benjamin J Briggs, Joseph D Dickerman
Sep 27, 2014·Seminars in Cell & Developmental Biology·Jessica LauriolMaria I Kontaridis
Jan 1, 2008·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Rie Yoshida, Tsutomu Ogata
Jan 1, 2006·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Tsutomu Ogata
Jan 1, 2007·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Kaoru YamamotoTsutomu Ogata
Feb 3, 2009·Neuron·Ivy S SamuelsGary E Landreth
Dec 17, 2005·American Journal of Human Genetics·Marco TartagliaBruce D Gelb
Feb 24, 2016·European Journal of Endocrinology·Catie CessansThomas Edouard
May 19, 2017·Haemophilia : the Official Journal of the World Federation of Hemophilia·J Perez BoteroM M Patnaik
Aug 2, 2005·European Journal of Medical Genetics·Marco Tartaglia, Bruce D Gelb
Feb 14, 2009·Lupus·M P LisbonaM Larrosa
Jul 28, 2017·American Journal of Medical Genetics. Part a·Paul KruszkaMaximilian Muenke
Nov 11, 2017·Journal of Biomolecular Structure & Dynamics·Hong-Lian LiRun-Ling Wang
Feb 7, 2008·Pediatric Blood & Cancer·Rie YoshidaToshiro Nagai
Jun 2, 2005·American Journal of Hematology·Kousaku MatsubaraTakashi Fukaya
Jun 9, 2005·American Journal of Medical Genetics. Part a·Constance G WeismannB D Gelb
Jul 6, 2010·American Journal of Medical Genetics. Part a·Judith E AllansonMartin Zenker
Nov 3, 2005·The Journal of Clinical Endocrinology and Metabolism·Jean-Marie LimalYves Le Bouc
Dec 15, 2019·American Journal of Medical Genetics. Part a·Chung-Lin LeeShuan-Pei Lin
Jun 16, 2005·The Journal of Clinical Endocrinology and Metabolism·Lize V FerreiraAlexander A L Jorge
Jun 30, 2005·The Journal of Clinical Endocrinology and Metabolism·G BinderN E Wittekindt
Oct 24, 2013·Journal of Pediatric Endocrinology & Metabolism : JPEM·Fernando A RodríguezFernando Cassorla
Jun 5, 2007·Arquivos brasileiros de endocrinologia e metabologia·Lize V FerreiraAlexander A L Jorge
Jul 1, 2005·The Journal of Biological Chemistry·Heike KeilhackBenjamin G Neel
Nov 23, 2019·Molecular Brain·Minkyung Kang, Yong-Seok Lee
Oct 26, 2016·Molecular Medicine Reports·Jia ZhangZhirong Yao

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