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Novel variant in the FGD1 gene causing Aarskog-Scott syndrome.
Exp Ther Med. 2017 Jun; 13(6):2623-2628.ET

Abstract

Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. Since it is rare and complex, it can take a long time to obtain a definitive clinical diagnosis unless clinicians are familiar with the disease. In the present study, whole-exome sequencing (WES) was performed to screen for causal variants in a Chinese pediatric patient who exhibited a number of clinical symptoms of ASS, including short stature, facial abnormalities, stubby metacarpals and swollen testis. DNA sequencing revealed a novel c.1270 A>G mutation in exon 6 of the FGD1 gene, which led to an amino acid conversion of asparagine to aspartic acid on codon 424 and in silico analysis indicated that this novel missense mutation was pathogenic. The present study identified a novel variant of the FGD1 gene and to the best of our knowledge, is the first report of ASS in a Chinese individual. The results indicated that WES is an effective tool for the diagnosis of rare and complex syndromes such as ASS.

Authors+Show Affiliations

Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China.Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China.Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China.Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China.Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28587322

Citation

Ge, Yihua, et al. "Novel Variant in the FGD1 Gene Causing Aarskog-Scott Syndrome." Experimental and Therapeutic Medicine, vol. 13, no. 6, 2017, pp. 2623-2628.
Ge Y, Li N, Wang Z, et al. Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. Exp Ther Med. 2017;13(6):2623-2628.
Ge, Y., Li, N., Wang, Z., Wang, J., & Cai, H. (2017). Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. Experimental and Therapeutic Medicine, 13(6), 2623-2628. https://doi.org/10.3892/etm.2017.4301
Ge Y, et al. Novel Variant in the FGD1 Gene Causing Aarskog-Scott Syndrome. Exp Ther Med. 2017;13(6):2623-2628. PubMed PMID: 28587322.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. AU - Ge,Yihua, AU - Li,Niu, AU - Wang,Zhigang, AU - Wang,Jian, AU - Cai,Haiqing, Y1 - 2017/04/05/ PY - 2015/09/05/received PY - 2016/10/11/accepted PY - 2017/6/8/entrez PY - 2017/6/8/pubmed PY - 2017/6/8/medline KW - Aarskog-Scott syndrome KW - FGD1 gene KW - novel variant KW - rare complex syndrome KW - whole-exome sequencing SP - 2623 EP - 2628 JF - Experimental and therapeutic medicine JO - Exp Ther Med VL - 13 IS - 6 N2 - Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. Since it is rare and complex, it can take a long time to obtain a definitive clinical diagnosis unless clinicians are familiar with the disease. In the present study, whole-exome sequencing (WES) was performed to screen for causal variants in a Chinese pediatric patient who exhibited a number of clinical symptoms of ASS, including short stature, facial abnormalities, stubby metacarpals and swollen testis. DNA sequencing revealed a novel c.1270 A>G mutation in exon 6 of the FGD1 gene, which led to an amino acid conversion of asparagine to aspartic acid on codon 424 and in silico analysis indicated that this novel missense mutation was pathogenic. The present study identified a novel variant of the FGD1 gene and to the best of our knowledge, is the first report of ASS in a Chinese individual. The results indicated that WES is an effective tool for the diagnosis of rare and complex syndromes such as ASS. SN - 1792-0981 UR - https://www.unboundmedicine.com/medline/citation/28587322/Novel_variant_in_the_FGD1_gene_causing_Aarskog-Scott_syndrome. L2 - https://www.ingentaconnect.com/openurl?genre=article&issn=1792-0981&volume=13&issue=6&spage=2623&aulast=Ge DB - PRIME DP - Unbound Medicine ER -
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