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Noonan-like/multiple giant cell lesion syndrome (NL/MGCLS; OMIM 163955) is a rare condition1–3 with phenotypic overlap with Noonan’s syndrome (OMIM 163950) and cherubism (OMIM 118400) (table 1).
Recently, missense mutations in the PTPN11 gene on chromosome 12q24.1 have been identified as the cause of Noonan’s syndrome in 45% of familial and sporadic cases,4,5 indicating genetic heterogeneity within the syndrome. In the study by Tartaglia et al,5 there was a family in which three members had features of Noonan’s syndrome; two of these had incidental mandibular giant cell lesions.3 All three members were found to have a PTPN11 mutation known to cosegregate with the Noonan phenotype. This mutation, an A→G transition at position 923 in exon 8, predicting an Asn308Ser substitution within the PTP domain, was identified in an unrelated kindred with classical Noonan’s syndrome. No other patients with NL/MGCLS had been evaluated for the PTPN11 mutation.
Cherubism is caused by a missense mutation in the coding region of the SH3BP2 gene on chromosome 4p16.3.6 In the study by Ueki et al,6 12 of 15 families showed point mutations in the SH3 binding protein, SH3BP2. All seven mutations identified were on exon 9 and affected three amino acids by substitution within a six amino acid sequence. A second locus or gene has not been identified.
We present the phenotype of three sporadic cases of NS/MGCLS and the results of mutation analysis of the PTPN11 and SH3BP2 genes.
The clinical features of the three patients are summarised in table 2.
All patients were enrolled in the National Institutes of Health IRB approved protocols and written informed consent was …