Two Cases of Autosomal Recessive Marinesco-Sj?gren Syndrome Caused by SIL1 Gene Mutations
10.12376/j.issn.2097-0501.2024.03.013
- VernacularTitle:SIL1基因变异所致常染色体隐性Marinesco-Sj?gren综合征2例
- Author:
Zhan QI
1
;
Ruolan GUO
;
Xuyun HU
;
Jun GUO
;
Chanjuan HAO
Author Information
1. 首都医科大学附属北京儿童医院出生缺陷遗传学研究室出生缺陷遗传学研究北京市重点实验室,北京 100045
- Keywords:
rare diseases;
Marinesco-Sj?gren syndrome;
SIL1 gene;
exome sequencing
- From:
JOURNAL OF RARE DISEASES
2024;3(3):358-362
- CountryChina
- Language:Chinese
-
Abstract:
Marinesco-Sj?gren syndrome(MSS)is a rare autosomal recessive inherited disease charac-terized by cerebellar ataxia,early-onset cataracts,chronic myopathy,and intellectual disability and develop-mental delay at varied degrees.Some patients may manifest such symptoms as short stature,hypergonadotropic hypogonadism,various skeletal abnormalities resulted from the muscular weakness,and others.This article re-ports the clinical and molecular diagnosis process of two MSS cases with global developmental delay.We found the compound heterozygous variants c.109delG(p.Glu37Serfs*4)and c.353G＞C(p.Arg118Thr),c.443delA(p.Lys148Argfs*10)and c.707A＞G(p.Asn236Ser)by Trio-whole exome sequencing(Trio-WES)which are evaluated as pathogenic,and uncertain significant,pathogenic and likely pathogenic variants separately.We provided genetic consultation based on the molecular diagnosis and evaluated the risk for the offsprings in the families.By introducing the two cases and literature review,this article aims at improving the understanding of MSS and providing reference to the diagnosis of the disease.
