A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS)

被引：11

作者：

Abbasi, Farzaneh ^{[1
]}

Ghafouri-Fard, Soudeh ^{[2
]}

Javaheri, Mona ^{[2
]}

Dideban, Abdullah ^{[1
]}

Ebrahimi, Ayoub ^{[1
]}

Ebrahim-Habibi, Azadeh ^{[3
,4
]}

机构：

[1] Univ Tehran Med Sci, Children Med Hosp, Growth & Dev Res Ctr, Tehran, Iran

[2] Shahid Beheshti Univ Med Sci, Dept Med Genet, Tehran, Iran

[3] Univ Tehran Med Sci, Endocrinol & Metab Mol Cellular Sci Inst, Biosensor Res Ctr, Tehran, Iran

[4] Univ Tehran Med Sci, Endocrinol & Metab Res Ctr, Endocrinol & Metab Clin Sci Inst, Tehran, Iran

来源：

GENE | 2014年 / 542卷 / 02期

关键词：

FAMILIAL TUMORAL CALCINOSIS; GALNT3; MUTATIONS;

D O I：

10.1016/j.gene.2014.03.052

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive metabolic disorder, characterized by recurrent painful swelling of long bones, periosteal new bone formation and cortical hyperostosis or intramedullaiy sclerosis, hyperphosphatemia and low intact fibroblast growth factor 23 (FGF23) protein levels. It is caused by mutations in 2 genes, N-acetylgalactosaminyltransferase 3 (GaINAc-transferase; GALNT3) and FGF23. We have performed mutation analysis of the GALNT3 and FGF23 genes in a patient with HHS and detected a homozygous mutation in exon 3 of FGF23 gene (NM_020638.2: c.471C > A) which results in amino acid change from phenylalanine 157 to leucin (p.F157L) in receptor interaction site. (C) 2014 Elsevier B.V. All rights reserved.

引用

页码：269 / 271

页数：3

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