Clinical features of Senior-Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man

• 발행기관: 대한의학유전학회
• 저자명: Harold Henrison C. Chiu Ma. Sergia Fatima P. Sucaldito Ebner Bon G. Maceda Jan Andre S. Montemayor Diana R. Tamondong-Lachica
• 간행물 정보: 『대한의학유전학회지』제17권 제1호, 39~42쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2020.06.30

영문 초록

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephro-nophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the ἀrst few years of life while renal manifestations (e.g., formation of multiple cysts impairing kid-ney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging ἀndings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a ho-mozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364*). This sequence change created a prema-ture translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

목차

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키워드

Ciliopathies IQCB1 protein human Leber congenital amaurosis Nephronophthisis familial juvenil Senior Loken syndrome