The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants

被引:3
|
作者
Malniece, Ieva [1 ]
Grasmane, Adele [2 ,3 ]
Inashkina, Inna [4 ]
Stavusis, Janis [4 ]
Kreile, Madara [1 ,3 ]
Miklasevics, Edvins [5 ]
Gailite, Linda [3 ]
机构
[1] Childrens Univ Hosp, Clin Med Genet & Prenatal Diagnost, Riga, Latvia
[2] Riga Stradins Univ, Fac Continuing Educ, Riga, Latvia
[3] Riga Stradins Univ, Sci Lab Mol Genet, Riga, Latvia
[4] Latvian Biomed Res & Study Ctr, Riga, Latvia
[5] Riga Stradins Univ, Inst Oncol, Riga, Latvia
来源
AMERICAN JOURNAL OF CASE REPORTS | 2020年 / 21卷
关键词
Lymphangioma; Cystic; Noonan Syndrome; Nuchal Translucency Measurement; SH2 Domain-Containing Protein Tyrosine Phosphatases; INCREASED NUCHAL TRANSLUCENCY; NORMAL KARYOTYPE; FETUSES; GENES;
D O I
10.12659/AJCR.922468
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Case series Patients: Female, 37-year-old center dot Female, 31-year-old Final Diagnosis: Noonan syndrome Symptoms: Fetal nuchal fold thickening Medication: - Clinical Procedure: Chorionic villi sampling Specialty: Genetics center dot Obstetrics and Gynecology Objective: Rare disease Background: The nuchal translucency measurement is the major focus of an early fetal ultrasound scan, with the goal to identify various inherited conditions, such as chromosomal aberrations and others. The diagnostic strategy for fetuses with increased nuchal translucency and normal karyotype is not clearly defined and may vary between countries. Case Reports: We describe 2 cases of Noonan syndrome diagnosed prenatally by ultrasound scanning and genetic testing. The prenatal ultrasound scans showed abnormal nuchal translucencies, cystic lymphangioma/cystic hygroma, and other findings. Both fetuses had normal karyotype; however, after additional analysis, pathogenic variants of the PTPN11 gene (encoding SH2 domain-containing protein tyrosine phosphatase) were found, previously frequently described as somatic variants in hematological malignancies in postnatal life, but not previously described with severe prenatal phenotype of Noonan syndrome. Conclusions: Our case reports confirm the hypothesis that severe, cancer related PTPN11 variants cause severe Noonan syndrome prenatal phenotype, when inherited in the germline. Analysis of pathogenic variants associated with Noonan syndrome should be included in the prenatal diagnostics for fetuses with increased nuchal translucency and normal karyotype.
引用
收藏
页码:e922468 / 1
页数:6
相关论文
共 50 条
  • [1] Noonan syndrome: Severe phenotype and PTPN11 mutations
    Carrasco Salas, Pilar
    Gomez-Molina, Gertrudis
    Carreto-Alba, PAxedes
    Granell-Escobar, Reyes
    Vazquez-Rico, Ignacio
    Leon-Justel, Antonio
    MEDICINA CLINICA, 2019, 152 (02): : 62 - 64
  • [2] Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome
    Zepeda-Olmos, Paola Montserrat
    Esparza-Garcia, Eduardo
    Robles-Espinoza, Kiabeth
    Gonzalez-Garcia, Juan Ramon
    Gutierrez, Perla Graciela Rodriguez
    Magana-Torres, Maria Teresa
    GENES, 2024, 15 (11)
  • [3] Electrocardiography in Noonan syndrome PTPN11 gene mutation -: phenotype characterization
    Croonen, Ellen A.
    van der Burgt, Ineke
    Kapusta, Livia
    Draaisma, Jos M. Th.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (03) : 350 - 353
  • [4] Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation
    Ferreira, Lize V.
    Souza, Silvia A. L.
    Montenegro, Luciana R.
    Arnhold, Ivo J. P.
    Pasqualini, Titania
    Heinrich, Juan Jorge
    Keselman, Ana Claudia
    Mendonca, Berenice B.
    Jorge, Alexander A. L.
    ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2007, 51 (03) : 450 - 456
  • [5] PTPN11 gene screening in 71 patients with Noonan syndrome and Noonan-like phenotype
    Bertola, D. R.
    Pereira, A.
    Kim, C. A.
    Albano, L. M. J.
    Krieger, J. E.
    EUROPEAN HEART JOURNAL, 2005, 26 : 197 - 197
  • [6] Congenital heart defects in Noonan syndrome and PTPN11 muta□onCongenital heart defects in Noonan syndrome and PTPN11 mutation
    Popa, Laura Claudia
    Andreescu, Nicoleta
    Farcas, Simona
    Chirita-Emandi, Adela
    Puiu, Maria
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 185 - 186
  • [7] Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype
    Gulec, Elif Yilmaz
    Ocak, Zeynep
    Candan, Sukru
    Ataman, Esra
    Yarar, Coskun
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2015, 186 : 13 - 15
  • [8] Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
    Marjolijn C J Jongmans
    Ineke van der Burgt
    Peter M Hoogerbrugge
    Kees Noordam
    Helger G Yntema
    Willy M Nillesen
    Roland P Kuiper
    Marjolijn JL Ligtenberg
    Ad Geurts van Kessel
    J Han JM van Krieken
    Lambertus ALM Kiemeney
    Nicoline Hoogerbrugge
    European Journal of Human Genetics, 2011, 19 : 870 - 874
  • [9] PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype
    Bertola, Debora R.
    Pereira, Alexandre C.
    Albano, Lilian Maria Jose
    De Oliveira, Paulo S. L.
    Kim, Chong A.
    Krieger, Jose Eduardo
    GENETIC TESTING, 2006, 10 (03): : 186 - 191
  • [10] Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
    Jongmans, Marjolijn C. J.
    van der Burgt, Ineke
    Hoogerbrugge, Peter M.
    Noordam, Kees
    Yntema, Helger G.
    Nillesen, Willy M.
    Kuiper, Roland P.
    Ligtenberg, Marjolijn J. L.
    van Kessel, Ad Geurts
    van Krieken, J. Han J. M.
    Kiemeney, Lambertus A. L. M.
    Hoogerbrugge, Nicoline
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (08) : 870 - 874