RAB3GAP1遺伝子の新規変異、シリアで初めて診断されたWarburg Micro症候群の症例

Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria.

• Soubhi Tenawi
• Rawan Al Khudari
• Diana Alasmar

抄録

ワールブルグマイクロ症候群は、RAB3GAP1、RAB3GAP2、RAB18、TBC1D20遺伝子の変異によるまれな常染色体劣性疾患です。視神経学的には小頭症、小頭症、冠状脳低形成、重度の精神遅滞（および生殖機能低下症）を特徴とし、非典型的な所見（心筋症、末梢神経障害）を呈することがある。我々は、RAB3GAP1遺伝子のホモ接合性突然変異を有する、シリアの同じ村の健康な非血縁両親から生まれた生後7ヶ月の男児を報告する。全エクソームシークエンシング（WES）により、RAB3GAP1遺伝子のエクソン19のc.2195del p.(Pro732Glnfs*6)にホモ接合性の変異が認められ、病原性が高くWarburg Micro症候群1型と相関している可能性がある。

Warburg Micro syndrome is a rare autosomal recessive disease due to mutation in the RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. It is commonly seen in consanguineous marriages, characterized by optic (microcornea, microphthalmia, congenital cataracts), neurologic )microcephaly, corpus callosum hypoplasia, severe mental retardation( and hypogonadism; some non-typical findings could be present (cardiomyopathy, peripheral neuropathy). We report a novel homozygous mutation in the RAB3GAP1 gene in a 7-month-old boy from healthy nonconsanguineous parents from the same village in Syria, with bilateral congenital cataracts, hypogonadism, muscular hypotonia and severe developmental delay. Whole exome sequencing (WES) showed a homozygous mutation in the c.2195del p.(Pro732Glnfs*6) in exon 19 of the RAB3GAP1 gene, which is likely pathogenic and correlates with Warburg Micro syndrome type 1.

© The Author(s) 2020. Published by Oxford University Press.