[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].
OBJECTIVE
LEOPARD syndrome (MIM #151100) is a rare autosomal dominant condition with characteristic skin anomalies, facial dysmorphism, hypertelorism, cardiac anomalies, and occasional conductive hearing loss. Mutations in the PTPN11 gene are described as the causal gene defect for the clinical features of Noonan syndrome (MIM #163950), but also for LEOPARD syndrome. For confirmation of the clinical diagnosis of multiple lentigines syndrome, the molecular genetic mutation analysis in the PTPN11 gene could be helpful.


METHODS
We report on a family with LEOPARD syndrome in which the mutation analysis in the father and his daughter in the PTPN11 gene was carried out us:ng PCR, DHPLC, and automated sequencing.


RESULTS
We could identify both father and daughter as carriers of the mutation Y279C in the PTPN11 gene, which is known as a disease-related mutation.


CONCLUSIONS
The allelic affinity to Noonan syndrome could thus be further supported.
Froster
U G
UG
Institut für Humangenetik, Universität Leipzig, Leipzig. reichsi@medizin.uni-leipzig.de
Glander
H-J
HJ
Heinritz
W
W
D000483:Alleles; D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006579:Heterozygote; D006801:Humans; D044542:LEOPARD Syndrome / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D009634:Noonan Syndrome / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
D004247:DNA; D017027:Protein Tyrosine Phosphatases