Phenotypical diversity in three family members with LEOPARD syndrome caused by Tyr279Cys mutation in PTPN11 gene

Authors

  • R Ben Aziza (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author
  • F Mezghani (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author
  • E Jbebli (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author
  • L Kraoua (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author
  • S Rhayem (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author
  • F Fedhila (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author
  • R Mrad (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author
  • S Haddad (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author
  • M Khemiri (1) Department of Pediatrics A, Béchir Hamza Children's Hospital, 1006, Tunis, Tunisia ; (2) Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, 1006, Tunis, Tunisia ; (3) Manar University, Medicine School of Tunis, 1007, Tunis, Tunisia Author

Keywords:

Multiple lentigines, Café-au-lait spots, LEOPARD syndrome, PTPN11 gene mutation

Abstract

LEOPARD syndrome (LS) is an inherited autosomal dominant disorder caused by mutations in the PTPN11, RAF1 and BRAF genes. Its major characteristics include multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. We report the cases of three family members from two generations presenting with multiple lentigines and café-au-lait spots. Direct sequencing revealed that all three had a recurrent mutation in PTPN11 (c.836A>G/p.Tyr279Cys), confirming LEOPARD syndrome.

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Published

2020-12-31

Issue

No. 20 (2020): October / December 2020

Section

Case Report

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