PTPN11 mutations in LEOPARD syndrome

Report of four cases in Taiwan

I. Shou Lin, Jieh-Neng Wang, Sheau-Chiou Chao, Jing-Ming Wu, Shio Jean Lin

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background/Purpose: LEOPARD syndrome (LS) is a rare, autosomal dominant disorder. The typical clinical presentation includes multiple lentigines and cardiac defects. Mutation analysis of the PTPN11 gene is feasible. We report four cases of LS, which were confirmed by molecular genetic study. Methods: The clinical features and mutations of the four patients were summarized. Results: The diagnosis of all four patients was made when lentigines appeared during childhood. Three cases had hypertrophic cardiomyopathy. No electrocardiographic conduction abnormality was noted in any of the cases. Three patients had hypertelorism and three had short stature. Two patients, identical twins, presented with the atypical phenotype of tongue protrusion and hepatosplenomegaly at birth. Twin B had mild mental retardation. Case 4 had moderate hearing impairment. Point mutation of the PTPN11 gene was found in all patients. Conclusion: LS has typical skin manifestations. All patients should undergo a comprehensive examination, especially echocardiography and electrocardiography. The diagnosis can be confirmed by genetic study.

Original languageEnglish
Pages (from-to)803-807
Number of pages5
JournalJournal of the Formosan Medical Association
Volume108
Issue number10
DOIs
Publication statusPublished - 2009 Jan 1

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LEOPARD Syndrome
Taiwan
Mutation
Lentigo
Hypertelorism
Skin Manifestations
Monozygotic Twins
Hypertrophic Cardiomyopathy
Hearing Loss
Tongue
Point Mutation
Intellectual Disability
Genes
Echocardiography
Molecular Biology
Electrocardiography
Parturition
Phenotype

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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abstract = "Background/Purpose: LEOPARD syndrome (LS) is a rare, autosomal dominant disorder. The typical clinical presentation includes multiple lentigines and cardiac defects. Mutation analysis of the PTPN11 gene is feasible. We report four cases of LS, which were confirmed by molecular genetic study. Methods: The clinical features and mutations of the four patients were summarized. Results: The diagnosis of all four patients was made when lentigines appeared during childhood. Three cases had hypertrophic cardiomyopathy. No electrocardiographic conduction abnormality was noted in any of the cases. Three patients had hypertelorism and three had short stature. Two patients, identical twins, presented with the atypical phenotype of tongue protrusion and hepatosplenomegaly at birth. Twin B had mild mental retardation. Case 4 had moderate hearing impairment. Point mutation of the PTPN11 gene was found in all patients. Conclusion: LS has typical skin manifestations. All patients should undergo a comprehensive examination, especially echocardiography and electrocardiography. The diagnosis can be confirmed by genetic study.",
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PTPN11 mutations in LEOPARD syndrome : Report of four cases in Taiwan. / Lin, I. Shou; Wang, Jieh-Neng; Chao, Sheau-Chiou; Wu, Jing-Ming; Lin, Shio Jean.

In: Journal of the Formosan Medical Association, Vol. 108, No. 10, 01.01.2009, p. 803-807.

Research output: Contribution to journalArticle

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AB - Background/Purpose: LEOPARD syndrome (LS) is a rare, autosomal dominant disorder. The typical clinical presentation includes multiple lentigines and cardiac defects. Mutation analysis of the PTPN11 gene is feasible. We report four cases of LS, which were confirmed by molecular genetic study. Methods: The clinical features and mutations of the four patients were summarized. Results: The diagnosis of all four patients was made when lentigines appeared during childhood. Three cases had hypertrophic cardiomyopathy. No electrocardiographic conduction abnormality was noted in any of the cases. Three patients had hypertelorism and three had short stature. Two patients, identical twins, presented with the atypical phenotype of tongue protrusion and hepatosplenomegaly at birth. Twin B had mild mental retardation. Case 4 had moderate hearing impairment. Point mutation of the PTPN11 gene was found in all patients. Conclusion: LS has typical skin manifestations. All patients should undergo a comprehensive examination, especially echocardiography and electrocardiography. The diagnosis can be confirmed by genetic study.

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