Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy

被引：18

作者：

Caiazza, Martina ^{[1
]}

Rubino, Marta ^{[1
]}

Monda, Emanuele ^{[1
]}

Passariello, Annalisa ^{[1
]}

Fusco, Adelaide ^{[1
]}

Cirillo, Annapaola ^{[1
]}

Esposito, Augusto ^{[1
]}

Pierno, Anna ^{[2
]}

De Fazio, Federica ^{[1
]}

Pacileo, Roberta ^{[1
]}

Evangelista, Eloisa ^{[3
]}

Pacileo, Giuseppe ^{[4
]}

Russo, Maria Giovanna ^{[1
]}

Limongelli, Giuseppe ^{[1
,5
,6
]}

机构：

[1] Univ Campania Luigi Vanvitelli, Monaldi Hosp, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, I-80131 Naples, Italy

[2] Univ Naples Federico II, Dept Physiol Nutr, I-80138 Naples, Italy

[3] Ames Genet Lab, I-80138 Naples, Italy

[4] Monaldi Hosp, Cardiomyopathies & Heart Failure Dept, I-80138 Naples, Italy

[5] UCL, Inst Cardiovascr Sci, London WC1E 6DD, England

[6] St Bartholomews Hosp, London WC1E 6DD, England

来源：

GENES | 2020年 / 11卷 / 08期

关键词：

Noonan syndrome; hypertrophic cardiomyopathy; double mutations; EXPRESSION; SOS1;

D O I：

10.3390/genes11080947

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In this report, an atypical case of Noonan syndrome (NS) associated with sarcomeric hypertrophic cardiomyopathy (HCM) in a 33-year-old patient was described. Genetic testing revealed two different disease-causing mutations: a mutation in the PTPN11 gene, explaining NS, and a mutation in the MYBPC3 gene, known to be associated with HCM. This case exemplifies the challenge in achieving a definite etiological diagnosis in patients with HCM and the need to exclude other diseases mimicking this condition (genocopies or phenocopies). Compound heterozygous mutations are rare but possible in HCM patients. In conclusion, this study highlights the important role of genetic testing as a necessary diagnostic tool for performing a definitive etiological diagnosis of HCM.

引用

页码：1 / 6

页数：6

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