Two patients with <i>EP300</i> mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome
説明
<jats:title>Abstract</jats:title><jats:p>Rubinstein–Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the <jats:italic>CREBBP</jats:italic> and <jats:italic>EP300</jats:italic> genes. Here we present a 19‐year‐old woman and an unrelated 3‐year‐old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in <jats:italic>EP300</jats:italic> (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. Mutations in <jats:italic>EP300</jats:italic> are a known but rare cause of RTS. Only five other patients have been reported. We propose that individuals with <jats:italic>EP300</jats:italic> mutations may exhibit a slightly different phenotype compared to individuals with <jats:italic>CREBBP</jats:italic> mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia. © 2009 Wiley‐Liss, Inc.</jats:p>
収録刊行物
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- American Journal of Medical Genetics Part A
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American Journal of Medical Genetics Part A 152A (1), 181-184, 2009-12-23
Wiley