✦ LIBER ✦

Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome

✍ Scribed by Rina Wu; Eric Legius; Wim Robberecht; Monique Dumoulin; Jean-Jacques Cassiman; Jean-Pierre Fryns

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 773 KB
Volume: 8
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)8:1<51::aid-humu7>3.0.co;2-s

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Martin Bobrow

Multiple lentigines (LEOPARD) syndrome has been delineated as an autosomal dominant disorder with lentigines, cardiac abnormalities, variable mental retardation, and typical craniofacial features as the most characteristic findings. LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1). In this report we describe a de novo missense mutation (M 1035R) in exon 18 of the NFf gene in a young woman with a prior diagnosis of LEOPARD syndrome. We hypothesize that some patients now diagnosed with LEOPARD syndrome have in fact a mutation in the NF1 gene, whereas in other patients with LEOPARD syndrome, a different gene might be involved.

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