Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía

Ezquieta, Begoña; Santomé, José L.; Carcavilla, Atilano; Guillén-Navarro, Encarna; Pérez-Aytés, Antonio; Pozo, Jaime Sánchez del; García‐Miñaúr, Sixto; Castillo, Emilia; Alonso, Milagros; Vendrell, Teresa; Santana, Alfredo; Maroto, Enrique E.; Galbis, Liliana

doi:10.1016/j.recesp.2011.12.016

Cited by 26 publications

(5 citation statements)

References 32 publications

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“…36 In our series, the diagnosis was limited, whenever possible, to patients with lentiginous lesions. This is illustrated by a case described in Ezquieta et al 13 The patient suffered NS stemming from the p.Asn308Asp amino acid change in PTPN11 and had multiple hyperpigmented lesions, as did his mother, who had tested negative in the mutation study. These results indicated that the multiple nevus lesions observed in mother and child were due to a cause other than mutations in PTPN11.…”

Section: Discussionmentioning

confidence: 95%

“…An initial clinical evaluation based on the preanalytical questionnaire described by Ezquieta et al 13 was used for case selection. Data on clinical characteristics relating to congenital heart conditions, skin changes, weight-to-height ratio, hearing problems, genital abnormalities, and patient facial characteristics were collected and stored in an Access database whose structure had been agreed among the clinicians involved.…”

Section: Clinical Evaluationmentioning

confidence: 99%

“…13,15 For patients with NS, Van der Burgt's diagnostic criteria were used 10 ; in those with cardiofaciocutaneous syndrome we used the cardiofaciocutaneous index, 16 and where Costello syndrome was suspected, the diagnosis was considered confirmed if the HRAS mutation was identified. 17 Clinical data for all of these patients were collected using the same methodology described for patients with LS.…”

Section: Clinical Evaluationmentioning

confidence: 99%

See 2 more Smart Citations

LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

Carcavilla

Santomé

Pinto

et al. 2013

Revista Española de Cardiología (English Edition)

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Section: Discussionmentioning

confidence: 95%

Section: Clinical Evaluationmentioning

confidence: 99%

Section: Clinical Evaluationmentioning

confidence: 99%

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LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

Carcavilla

Santomé

Pinto

et al. 2013

Revista Española de Cardiología (English Edition)

Self Cite

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“…1B). This particular gene mutation (c.155 C > T) has been reported as likely pathogenic for Noonan Syndrome ref 18 . However, unlike the oncogenic clone of cells carrying both SF3B1 and TP53 mutations, this putative pathogenic clone of cells did not expand much during AML progression (~5% VAF at all time-points), (Fig.…”

Section: Resultsmentioning

confidence: 86%

Clonal Evolution and Changes in Two AML Patients Detected with A Novel Single-Cell DNA Sequencing Platform

Durruthy-Durruthy

Eastburn

et al. 2019

Sci Rep

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Next-generation sequencing (NGS) is used to detect gene variants in genetically complex cell populations of cancer patient samples. Traditional bulk analysis can only provide average variant allele frequencies of the targeted genes across all sampled cells. It fails to resolve mutational co-occurrences and may miss rare cancer cells. Genome analysis at the single cell level offers the opportunity to more fully resolve clonal architecture. Peripheral blood mononuclear cells were sampled from acute myeloid leukemia patients longitudinally and single-cell DNA sequencing libraries were generated with a novel droplet-based microfluidics approach. Molecular profiling of single nucleotide variants across thousands of cells revealed genetic chimerism in patients after bone marrow transplantation (BMT). Importantly, hierarchical clustering analysis of single nucleotide variants (SNVs) uncovered a distinct oncogenic clone of cells carrying mutated tumor-suppressor and/or oncogene(s). This novel single-cell DNA sequencing approach enabled precise monitoring of engraftment and revealed clonal evolution of oncogenic cells during the progression and treatment of the disease.

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“…Yanlış anlamlı değişim bulunan aminoasit pozisyonunun protein lokasyonuna bakıldığında 103 ile 111. aminoasitler aralığının iki SH domaininin katlanmasında işlev gördüğü (N-SH2/C-SH2 linker) bildirilmektedir (29,30). Daha önce bu bölgede 106. ve 110. pozisyonda saptanan p.D106A, p.D106G, p.E110A, p.E110K değişimleri Noonan sendromu ile ilişkilendirilmiştir (13,28,(31)(32)(33). Tahmin programlarının patojenik özelliğine işaret etmesi, klinik ve USG bulguların PTPN11 patolojileri ile uyumlu görülmesi ve değişimin de novo oluşması p.P107S'nin hastalık ilişkili olma olasılığını desteklemiştir.…”

Section: Günümüzde Ns Ile Ilişkili Bugüne Kadar 29 Gen (A2ml1 Brafunclassified

Noonan Sendromu’nun Prenatal Tanisinda Ptpn11 Gen Anali̇zleri̇ni̇n Etki̇nli̇ği̇

Toksoy¹,

Tepgeç²,

Sivrikoz³

et al. 2021

J Istanb Fac Med

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Hücre büyüme, farklılaşma, yaşlanma ve siklus düzenlenmesinde önemli rol oynayan RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) yolağında bulunan 29 gendeki dominant patojenik varyantların yol açtığı klinik grup "Rasopatiler" olarak adlandırılır. En sık gözleneni Noonan sendromu (NS)'dur. Olguların ~%50'sinde NS ilişkili PTPN11 varyantları saptanır ve bu varyantların %90'ı peptidin N-önündeki ilk SH2 ve C-yönündeki katalitik domainini kodlayan bölgelerde ortaya çıkar. Prenatal evrede artmış nukal kalınlık (NT) ve ayrıca kistik higroma, plevral efüzyon ve asit gibi lenfatik sistem anomalilerinin yanı sıra kardiyak anomaliler, polihidramniyos, ekstremite kısalığı ve makrosefali NS'nin bulguları arasında sayılır. PTPN11 ilişkisi, kromozom anomalisi dışlanmış NT bulgusu olan fetusların %2-3'ünde, ek NS bulgusu olanlarda ise >%10 olarak bildirilmektedir. Gereç ve Yöntem: Çalışmamızda, NS ilişkili Ultrasonografi (USG) bulgusu olan, kromozom anomalisi dışlanmış 246 prenatal olguda, farklı yaklaşımlarla çalışılan PTPN11 gen analiz sonuçları retrospektif olarak değerlendirildi. Olguların 200'ünde genin hedef ekzonları (ekzon 3, 4, 7, 8, 13 ve 14), 46 olguda ise tüm gen Sanger dizileme yöntemi ile incelendi. Bulgular: Genel seride beş olguda (%2) ikisi novel olan (p.P107S ve p.M504T) beş farklı varyant hedeflenmiş ekzonlarda saptandı. Bu beş olgunun ikisinde izole NT ve üçünde çoklu USG bulguları mevcuttu. PTPN11 varyantı saptanmayan altı olguda, Rasopati

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Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía

Cited by 26 publications

References 32 publications

LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

Clonal Evolution and Changes in Two AML Patients Detected with A Novel Single-Cell DNA Sequencing Platform

Noonan Sendromu’nun Prenatal Tanisinda Ptpn11 Gen Anali̇zleri̇ni̇n Etki̇nli̇ği̇

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