title: Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes.
abstract: Here we report on a patient with multiple lentigines, hypertelorism, short stature, arachnodactyly, scoliosis, dissecting aneurysm, hypertrophic cardiomyopathy and developmental delay, and a family history of Marfan syndrome. The patient is affected with both Marfan and LEOPARD syndromes. Mutational screening of the FBN1 gene showed a c.1464T>A (p.C488X) mutation and screening of the PTPN11 gene showed a c.836A>G (p.Y279C) mutation. We conclude that each mutation contributed independently to individual features in the ocular and cardiovascular systems, although short stature was more significantly influenced by the p.Y279C change in PTPN11 rather than the mutation in FBN1. To our knowledge, this is the first report of mutations in both FBN1 and PTPN11 with combined phenotypes of Marfan and LEOPARD syndromes.
authors.affiliation: International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Sa
authors.initials: S
authors.lastname: Tang
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hoshida
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kamisago
authors.forename: Hisato
authors.initials: H
authors.lastname: Yagi
authors.forename: Kazuo
authors.initials: K
authors.lastname: Momma
authors.forename: Rumiko
authors.initials: R
authors.lastname: Matsuoka
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D000071838:Fibrillin-1; D000071837:Fibrillins; D005838:Genotype; D006801:Humans; D044542:LEOPARD Syndrome / Q000150:complications* / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; C000605722:FBN1 protein, human; D054392:Adipokines; C516724:PTPN11 protein, human