Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

American Journal of Human Genetics
Marco TartagliaBruce D Gelb

Abstract

Germline mutations in PTPN11--the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2--represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects. Like many autosomal dominant disorders, a significant percentage of NS cases appear to arise from de novo mutations. Here, we investigated the parental origin of de novo PTPN11 lesions and explored the effect of paternal age in NS. By analyzing intronic portions that flank the exonic PTPN11 lesions in 49 sporadic NS cases, we traced the parental origin of mutations in 14 families. Our results showed that all mutations were inherited from the father, despite the fact that no substitution affected a CpG dinucleotide. We also report that advanced paternal age was observed among cohorts of sporadic NS cases with and without PTPN11 mutations and that a significant sex-ratio bias favoring transmission to males was present in subjects with sporadic NS caused by PTPN11 mutations, as well as in families inheriting the disorder.

References

Jun 15, 1991·American Journal of Medical Genetics·Y NakahoriY Nakagome
Oct 1, 1968·American Journal of Diseases of Children·J A Noonan
Jan 1, 1974·American Journal of Diseases of Children·J J NoraH A Lubs
Dec 1, 1994·Nature Genetics·C R JamiesonE Mariman
Jun 1, 1994·Journal of Medical Genetics·M M ElsawiM A Patton
Nov 1, 1995·Human Molecular Genetics·F M RichardsE R Maher
May 1, 1996·Nature Genetics·D M MoloneyA O Wilkie
Mar 11, 2000·American Journal of Human Genetics·R L GlaserE W Jabs
Nov 21, 2000·Neurogenetics·L KluweM MacCollin
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
Oct 25, 2002·Proceedings of the National Academy of Sciences of the United States of America·Irene Tiemann-BoegeNorman Arnheim
Jan 17, 2003·European Journal of Human Genetics : EJHG·Els SchollenEric Legius
May 10, 2003·European Journal of Pediatrics·Tatsuro KondohHiroyuki Moriuchi
Aug 27, 2003·European Journal of Human Genetics : EJHG·Alessandra SplendoreMaria Rita Passos-Bueno
Aug 13, 1955·Lancet·L S PENROSE
Dec 3, 2003·Blood·Mignon L LohKevin M Shannon
Dec 12, 2003·Fertility and Sterility·Narendra P SinghRichard E Berger
Mar 6, 2004·The Journal of Pediatrics·Martin ZenkerAnita Rauch

❮ Previous
Next ❯

Citations

Dec 10, 2008·Expert Reviews in Molecular Medicine·William E Tidyman, Katherine A Rauen
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Marco Tartaglia, Bruce D Gelb
Jan 16, 2007·Orphanet Journal of Rare Diseases·Ineke van der Burgt
Dec 31, 2010·World Journal of Cardiology·Giuseppe NovelliJawahar L Mehta
Jun 13, 2006·Proceedings of the National Academy of Sciences of the United States of America·A J WyrobekD Evenson
Dec 21, 2005·Human Genetics·Rong LiMichael Brenner
Feb 14, 2008·European Journal of Pediatrics·R RaaijmakersJ M T Draaisma
Dec 15, 2015·Birth Defects Research. Part B, Developmental and Reproductive Toxicology·Stine Kjaer UrhojAnne-Marie Nybo Andersen
Jul 13, 2006·Human Mutation·Katia Sol-ChurchKaren W Gripp
Oct 16, 2008·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Evisabel A CraigTodd D Camenisch
Nov 3, 2007·Evolution; International Journal of Organic Evolution·Philip W Hedrick
Aug 1, 2012·American Journal of Medical Genetics. Part a·Eric PasmantBéatrice Parfait
May 11, 2011·Clinical Genetics·S PauliJ Kohlhase
Oct 28, 2010·American Journal of Medical Genetics. Part a·Siham Chafai ElalaouiAbdelaziz Sefiani
Aug 2, 2005·European Journal of Medical Genetics·Marco Tartaglia, Bruce D Gelb
Feb 14, 2012·American Journal of Human Genetics·Anne Goriely, Andrew O M Wilkie
Apr 14, 2016·Annual Review of Genomics and Human Genetics·Norman Arnheim, Peter Calabrese
Sep 7, 2016·Stem Cells and Development·Makiko YamadaMarco Seandel
Jun 21, 2018·Endocrine Reviews·Mylène TajanArmelle Yart
Dec 21, 2018·Circulation·Mary Ella PierpontUNKNOWN American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and
Aug 8, 2006·American Journal of Medical Genetics. Part a·Johann BöhmJürgen Kohlhase
Mar 7, 2006·Genes, Chromosomes & Cancer·Yuyan ChenYasuhide Hayashi
Mar 13, 2019·Clinical Genetics·Alistair T PagnamentaHelen Stewart
Jan 9, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ashley ParrottErin M Miller
Jun 20, 2020·Birth Defects Research·Cedrik Tekendo-Ngongang, Paul Kruszka
Jun 5, 2007·Arquivos brasileiros de endocrinologia e metabologia·Lize V FerreiraAlexander A L Jorge
Oct 5, 2006·Journal of Radiation Research·James F Crow
Jun 11, 2008·Journal of Pediatric Endocrinology & Metabolism : JPEM·R RaaijmakersB J Otten
Dec 19, 2021·Scientific Reports·Shinichiro ChumaTakashi Shinohara

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America
Anne GorielyAndrew Om Wilkie
Journal of Medical Genetics
M M ElsawiM A Patton
Archives of Disease in Childhood
M SharlandM A Paton
© 2022 Meta ULC. All rights reserved