LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes.
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ABSTRACT:
SUBMITTER: Alfurayh N
PROVIDER: S-EPMC7396475 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
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LEOPARD Syndrome with <i>PTPN11</i> Gene Mutation in Three Family Members Presenting with Different Phenotypes.
Alfurayh Nuha N Alsaif Fahad F Alballa Nouf N Zeitouni Leena L Ramzan Khushnooda K Imtiaz Faiqa F Alakeel Abdullah A
Journal of pediatric genetics 20191115 4
LEOPARD syndrome (LS) is a rare autosomal dominant disorder that is characterized by multiple lentigines and various congenital anomalies. The clinical diagnosis of LS requires molecular confirmation. The most frequently reported mutations in LS patients are in the protein tyrosine phosphatase nonreceptor type 11 gene, <i>PTPN11</i> . Herein, we report the cases of three family members from two generations who are affected by LS and all carry the <i>PTPN11</i> mutation c.836A > G (p.Tyr279Cys), ...[more]
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