知的障害のある患者における新しい切り捨てPPM1D変異

PPM1D遺伝子の最後および最後から2番目のエクソンの切り捨て変異は、最近、14人の患者の軽度から重度の知的障害の原因として説明されました。OMIMデータベース（MIM＃617450（MIM＃617450）では、摂食の困難、発熱と嘔吐の期間、および高い痛みの閾値が追加の特徴として説明され、その後「胃腸困難と高い痛みのしきい値（IDDGIP）を伴う知的発達障害」と呼ばれました。）。ここでは、PPM1dの最後のエクソンに、新規のdo novo truncating変異NM_003620.3：C.1535del、p。（asn512ilefs*2）を運ぶ追加の患者について報告します。患者は、短い身長や小さな手と足などの報告された表現型と重複する特徴を示しましたが、彼はまた、唇や口蓋裂や異常な右clavian動脈などの追加の特徴を提示しました。特に、患者は胃腸障害や発熱の期間を持たず、PPM1D変異患者の表現型の変動性を示していました。

Truncating mutations in the last and penultimate exons of the PPM1D gene were recently described as a cause for mild to severe intellectual disability in fourteen patients. Feeding difficulties, periods of fever and vomiting as well as a high pain threshold were described as additional characteristic features and the disorder was subsequently termed "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP)" in the OMIM database (MIM # 617450). Here we report on an additional patient carrying a novel de novo truncating mutation NM_003620.3: c.1535del, p.(Asn512Ilefs*2) in the last exon of PPM1D. While the patient showed features overlapping with the reported phenotype, such as a short stature and small hands and feet, he also presented with additional features like cleft lip and palate and an aberrant right subclavian artery. Notably, the patient did not have any gastrointestinal difficulties or periods of fever, indicating variability of the phenotype of patients with PPM1D mutations.