Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient

Background. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive pleiotropic disease caused by mutations in the SMARCAL1 gene. To date there have been no data from the Chinese population. Here, we report the first SIOD case in the Chinese population. No case with gross carpal bone a...

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Published in:Nephrology, dialysis, transplantation dialysis, transplantation, 2010-05, Vol.25 (5), p.1697-1702
Main Authors: Yue, Zhihui, Xiong, Shiyi, Sun, Liangzhong, Huang, Weijun, Mo, Ying, Huang, Liuyi, Jiang, Xiaoyun, Chen, Shumei, Hu, Bin, Wang, Yiming
Format: Article
Language:English
Subjects:
Adult
Amino Acid Sequence
Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy
Biological and medical sciences
Blood. Blood coagulation. Reticuloendothelial system
bone age retardation
Child
Computational Biology
DNA Helicases - chemistry
DNA Helicases - genetics
Emergency and intensive care: renal failure. Dialysis management
Female
focal segmental glomerulosclerosis
Haplotypes
Humans
Immunologic Deficiency Syndromes - genetics
Intensive care medicine
Male
Medical sciences
Molecular Sequence Data
Mutation
Osteochondrodysplasias - genetics
Pharmacology. Drug treatments
Schimke immuno-osseous dysplasia
SMARCAL1
spondyloepiphyseal dysplasia
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Summary:Background. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive pleiotropic disease caused by mutations in the SMARCAL1 gene. To date there have been no data from the Chinese population. Here, we report the first SIOD case in the Chinese population. No case with gross carpal bone age retardation has been reported previously. Methods. The index patient was diagnosed by clinical and laboratory investigations. Mutations analysis of the SMARCAL1 gene and haplotype analysis were performed in the family. Structural predictions of the wild-type and mutant proteins were conducted. Results. Severe SIOD was diagnosed in an 8-year-old boy, who exhibited growth failure, recurrent infection, neutropaenia, spondyloepiphyseal dysplasia, focal segmental glomerulosclerosis, T cell immunodeficiency and facial dysmorphism. Marked carpal bone age retardation was also observed. Sequence analysis of the SMARCAL1 gene revealed two novel mutations: c.3G>A (p.Met1?) and c.1682G>A (p.Arg561His) in the boy. Haplotype analysis and mutation detection showed that the father is the carrier of c.3G>A (p.Met1?) and the mother is the carrier of c.1682G>A (p.Arg561His). The paternal mutation, c.3G>A (p.Met1?), is predicted to introduce a new open reading frame, resulting in truncation of 103 amino acids at the N-terminus. The maternal mutation occurred in the SNF2-related domain involved in ATP hydrolyzation and DNA binding and is predicted to alter the local spatial structure of the protein. Conclusion. We report the first SIOD patient from China, who exhibited gross carpal bone age retardation and carried two novel mutations, c.3G>A (p.Met1?) and c.1682G>A (p.Arg561His), in the SMARCAL1 gene.
ISSN:0931-0509
1460-2385
DOI:10.1093/ndt/gfq071