Aarskog-Scott症候群：新規FGD1変異と16p13.11-p12.3マイクロデュプリケーションを共存させた一家の臨床的および分子的特徴

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.

• Piero Pavone
• Silvia Marino
• Antonino Maniaci
• Salvatore Cocuzza

抄録

Aarskog-Scott症候群（AAS）は、顔面性器形成不全症または顔面性器症候群としても知られている、顔面、四肢および生殖器の異常を臨床的に特徴づける稀な遺伝性疾患である。常染色体優性や劣性のパターンも報告されているが、これまでのところ、遺伝子の変異に関連したX連鎖型のみがこの症候群の原因であると認識されている。最年少の患者であるプロブランドとその母親は、分子レベルで研究され、これまでに報告されていない遺伝子変異c.1828C>T (p. Arg610*)の特徴を持っていたが、AASの古典的な表現型を持っていた。さらに、この息子と母親は2.5Mbの16p13.11-p12.3マイクロ重複を有しており、この遺伝子変異は表現型の影響についてはまだ明らかにされていない。

Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the gene has been recognised as causative for this syndrome.In this case report, we describe a large Italian family in which three members across three generations show classical features of the syndrome. The youngest patient, the proband, and his mother were both molecularly studied and characterised for the not previously reported variant c.1828C>T (p. Arg610*) in the gene but with the classic phenotype of AAS. Additionally, both the proband and his mother present a 2.5 Mb 16p13.11-p12.3 microduplication, a genetic variant still unclear for the phenotypic consequences: the co-occurrence of the two rare conditions is discussed for the possible clinical significance.

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