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논문분류	춘계학술대회 초록집
제목	Clinical Features of Lowe Syndrome Confirmed by a OCRL1 Gene Mutation (c.2083C>T) in a Korean Child
저자	Moon Jeong Lee1, Hae Il Cheong2, Young Bae Sohn3, Ki Soo Pai1,Sung Hwan Kim1, Jae Il Shin4, Se Jin Park
출판정보	2013; 2013(1):
키워드	로웨 증후군, OCRL1 유전자 변이, 소아/Lowe syndrome, Oculocerebrorenal syndrome, OCRL1 Gene mutation
초록	Lowe syndrome (MIM 309000), also known as oculocerebrorenal syndrome of Lowe (OCRL), is a rare X-linked multisystem disorder characterized by the presence of developmental abnormalities affecting the eye, the nervous system, and the kidney. The syndrome is caused by pathogenic DNA variations in the X-linked OCRL1 gene. Bilateral cataracts and severe hypotonia are present at birth. Lowe syndrome can clinically be suspected in males who show the typical phenotype of deep-set small eyes, frontal bossing, elongated face, bilateral dense congenital cataracts, infantile congenital hypotonia, delayed development, and proximal renal tubular dysfunction. We report the first case of a patient initially characterized by delayed development and proteinuria and genetically diagnosed with OCRL1 gene mutation (c.2083C>T) in Korean children.
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