干旱区生态环境知识资源中心(Arid): Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development

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	Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development
	Shojaei, Azadeh; Ebrahimzadeh-Vesal, Reza; Ali, Ahani; Razzaghy-Azar, Maryam; Khakpour, Golnaz; Ghazi, Farideh; Tavakkoly-Bazzaz, Javad
通讯作者	Tavakkoly-Bazzaz, J
来源期刊	REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY
ISSN	2322-3480
出版年	2017
卷号	6 期号:1 页码:58-65
英文摘要	Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46, XY DSDs have no definitive etiological diagnoses; therefore, the possibility that other genes or loci might play important roles in these disorders needs to be explored. Methods: Patients (37) clinically suspicious for 46, XY gonadal dysgenesis (46, XY GD) of unknown etiology were studied. SRY, encoding the sex-determining region Y protein, NR5A1, encoding a transcription factor called steroidogenic factor 1, and DHH, encoding the desert hedgehog protein, were directly sequenced. Multiplex ligation-dependent probe amplification (MLPA) was used to detect deletions in NR0B1, encoding the DAX1 protein, and WNT4, encoding the WNT4 protein, and real-time PCR (qPCR) confirmed the MLPA data. Other potential loci have been investigated in the complete genome using Array-Comparative Genomic Hybridization, (Array CGH). Results: The SRY deletion was found in five patients. One each of previously described NR5A1, DHH, and AR (androgen receptor) allelic variants were identified. A pathogenic c.2522G> A AR mutation was found in two affected brothers. A heterozygous partial deletion was found in NR5A1 and heterozygous partial duplications were found in WNT4. These deletions and duplications (del/dup) were confirmed by qPCR. The Array CGH result demonstrated one partial deletion in SOX2-OT, which encodes a member of the SOX family of transcription factors, and the exact region of the rearrangements. Conclusions: According to our study, del/dup mutations could be checked prior to point mutations, SOX2-OT has a potential role in gonadal dysgenesis, and Array CGH has a prominent role in gonadal dysgenesis diagnosis.
英文关键词	Array-Comparative Genomic Hybridization (Array-CGH) Disorders of sex development (DSDs) Mutation
类型	Article
语种	英语
开放获取类型	DOAJ Gold
收录类别	ESCI
WOS记录号	WOS:000411113100008
WOS关键词	PARTIAL GONADAL-DYSGENESIS ; TESTIS-DETERMINING REGION ; DESERT-HEDGEHOG GENE ; MYOTUBULAR MYOPATHY ; Y-CHROMOSOME ; ADRENAL INSUFFICIENCY ; CYTOGENETIC ANALYSIS ; GENITAL DEVELOPMENT ; MUTATIONS ; SRY
WOS类目	Biochemistry & Molecular Biology
WOS研究方向	Biochemistry & Molecular Biology
Scopus学科分类	Iran Univ Med Sci, Dept Med Genet & Mol Biol, Fac Med, Tehran, Iran.
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/332268
作者单位	[Shojaei, Azadeh] Iran Univ Med Sci, Dept Med Genet & Mol Biol, Fac Med, Tehran, Iran; [Ebrahimzadeh-Vesal, Reza] Neyshabur Univ Med Sci, Dept Basic Med Sci, Fac Med, Neyshabur, Iran; [Ali, Ahani] Mendel Med Genet Lab, Tehran, Iran; [Razzaghy-Azar, Maryam] Iran Univ Med Sci, Endocrinol & Metab Mol Cellular Sci Inst, Metab Disorders Res Ctr, Tehran, Iran; [Razzaghy-Azar, Maryam] Iran Univ Med Sci, H Aliasghar Hosp, Tehran, Iran; [Khakpour, Golnaz; Tavakkoly-Bazzaz, Javad] Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran; [Ghazi, Farideh] Iran Univ Med Sci, Dept Med Genet & Mol Biol, Fac Med, Tehran, Iran
推荐引用方式 GB/T 7714	Shojaei, Azadeh,Ebrahimzadeh-Vesal, Reza,Ali, Ahani,et al. Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development[J],2017,6(1):58-65.
APA	Shojaei, Azadeh.,Ebrahimzadeh-Vesal, Reza.,Ali, Ahani.,Razzaghy-Azar, Maryam.,Khakpour, Golnaz.,...&Tavakkoly-Bazzaz, Javad.(2017).Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY,6(1),58-65.
MLA	Shojaei, Azadeh,et al."Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development".REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY 6.1(2017):58-65.