PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

被引：0

作者：

M. Cristina Digilio

Anna Sarkozy

Giuseppe Pacileo

Giuseppe Limongelli

Bruno Marino

Bruno Dallapiccola

机构：

[1] Bambino Gesù Hospital,Medical Genetics

[2] University La Sapienza and CSS-Mendel Institute,Experimental Medicine and Pathology

[3] Monaldi Hospital,Pediatric Cardiology

[4] Department of Pediatrics,Pediatric Cardiology

[5] University La Sapienza,undefined

来源：

European Journal of Pediatrics | 2006年 / 165卷

关键词：

Hypertrophic cardiomyopathy; LEOPARD syndrome; Noonan syndrome; gene;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We describe the “LEOPARD syndrome (LS) phenotype” associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.

引用

页码：803 / 805

页数：2

共 50 条

[21] Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome
Yoshida, R
Nagai, T
Hasegawa, T
Kinoshita, E
Tanaka, T
Ogata, T
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 130A (04) : 432 - 434
[22] Melanoma and LEOPARD Syndrome: Understanding the Role of PTPN11 Mutations in Melanomagenesis
Palacios-Diaz, Rodolfo David
Pozuelo-Ruiz, Monica
de Unamuno-Bustos, Blanca
Llavador-Ros, Margarita
Botella-Estrada, Rafael
ACTA DERMATO-VENEREOLOGICA, 2024, 104
[23] LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review
Zhou, Yingwen
Yang, Kai
Ma, Kai
Lu, Minjie
ESC HEART FAILURE, 2025, 12 (01): : 664 - 667
[24] LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes
Alfurayh, Nuha
Alsaif, Fahad
Alballa, Nouf
Zeitouni, Leena
Ramzan, Khushnooda
Imtiaz, Faiqa
Alakeel, Abdullah
JOURNAL OF PEDIATRIC GENETICS, 2020, 09 (04) : 246 - 251
[25] The role of PTPN11 mutations in Noonan and LEOPARD syndromes
Short, J
Shaw, A
Kalidas, K
Jeffery, S
Patton, M
Taylor, R
JOURNAL OF MEDICAL GENETICS, 2005, 42 : S99 - S99
[26] Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy:: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
Digilio, MC
Pacileo, G
Sarkozy, A
Limongelli, G
Conti, E
Cerrato, F
Marino, B
Pizzuti, A
Calabrò, R
Dallapiccola, B
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2004, 70 (02) : 95 - 98
[27] Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome
Zhang, Jia
Shen, Jinwen
Cheng, Ruhong
Ni, Cheng
Liang, Jianying
Li, Ming
Yao, Zhirong
MOLECULAR MEDICINE REPORTS, 2016, 14 (03) : 2639 - 2643
[28] Two novel mutations in the PTPN11 gene associated with Noonan and LEOPARD syndromes
Ylonen, S
Körkkö, J
Somer, M
Ignatius, J
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 581 - 581
[29] 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
[30] Genotype/phenotype correlation in LEOPARD syndrome: different mutations in PTPN11 and RAF1 promote Hypertrophic Cardiomyopathy
Francalanci, P.
Lepri, F.
Digilio, M. C.
Dallapiccola, B.
Di Carlo, D.
Callea, F.
HISTOPATHOLOGY, 2012, 61 : 38 - 38

← 1 2 3 4 5 →