FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE encodes the catalytic subunit of DNA polymerase epsilon.
カテゴリ
先天奇形
階層分類
ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
多発性の発達異常または症候群
LD2F 多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
H02370 FILS 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
複製と修復
nt06509 DNA 複製
H02370 FILS 症候群
nt06504 塩基除去修復
H02370 FILS 症候群
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G
タイトル
Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP
タイトル
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
