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Reza Ebrahimzadeh-Vesal Seyed kianush Hosseini Fereshteh Rezakhanlu Pupak Derakhshandeh-Peykar 《Reports of Biochemistry & Molecular Biology》2013,2(1):52-55
Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.Key Words: Holt-Oram syndrome, Congenital heart malformation, TBX5 gene 相似文献
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Azadeh Shojaei Farkhondeh Behjati Pupak Derakhshandeh-Peykar Maryam Razzaghy-Azar Hasan Otukesh Roxana Kariminejad Mohammad-Ali Dowlati Ali Rashidi-Nezhad Javad Tavakkoly-Bazzaz 《Gene》2013
Terminal 7q duplication and terminal 13q deletion are two conditions with variable phenotypes including microcephaly, thumb a-/hypoplasia, cortical dysplasia, microphtalmia, intellectual disability and dysmorphic features. We describe a boy born to a mother with a reciprocal t (7;13) who combines both a terminal 7q33-qter duplication and terminal 13q33-qter deletion through the inheritance of a derivative chromosome 13 (der (13)). The patient presented with developmental delay, facial and non-facial dysmorphic features, hypertonia, genital abnormality and skeletal malformation but no thumb a-/hypoplasia or microphtalmia. Knowing the exact breakpoints of his chromosomal aberrations using high resolution array CGH (aCGH) and comparison of his phenotypes with those of 24 and 59 previously published cases of 7q duplication and 13q deletion, respectively, allow us to further narrow the size of the proposed critical regions for microcephaly, thumb a-/hypoplasia and hypo/hypertonia on chromosome 13. 相似文献
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Mohammad Ali Dowlati Pupak Derakhshandeh-peykar Massoud Houshmand Mohammad Farhadi Azadeh Shojaei Masoomeh Fallah Esmaiil Mohammadi Ardavan Tajdini Shima Arastoo Javad Tavakkoly-Bazzaz 《Molecular biology reports》2013,40(3):2689-2695
Mitochondria have essential role in cellular energy metabolism and defects in their function lead to many metabolic diseases. Mitochondrial DNA (mtDNA) mutations have been associated with number diseases such as nonsyndromic and aminoglycoside-induced hearing loss. Mutational screening of entire 12SrRNA and tRNA ser (UCN) genes in 107 unrelated Iranian patients with amino glycoside-induced and nonsyndromic bilateral hearing loss by direct sequencing analysis method were performed. Twenty different homoplasmic sequence variants were identified; including fifteen common polymorphisms, two putatively pathogenic variants: m.921T>C and m.1005T>C, one 12SrRNA sequence variant m.739C>T and two nucleotides substitution; m.1245T>C and m.1545T>C. Deafness-associated mutation, m.1555A>G, was not found. In our patients we found the mutation 1005 was associated with R haplogroup. These finding show that m.1555A>G mutation is not important in our population. Nucleotide change, m.739C>T, previously reported with very low frequency. We suggested the variation of two nucleotides 1245 and 1545 that localized at conserved site of 12SrRNA may be new candidate for amino glycoside-induced and nonsyndromic hearing impairment associated mutations. However, aminoglycoside exposure is a risk factor for clinical phenotype appearance of these mutations. 相似文献
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Aliakbar Rahbarimanesh Pupak Derakhshandeh-Peykar Amirhassan Barkhordari Reza Ebrahimzadeh-Vesal Soja Shamizadeh Kalkhoran 《Reports of Biochemistry & Molecular Biology》2013,1(2):87-90
Background:
Here we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations.Methods:
Additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, and as a first case reported, fingers with camptodactly (i.e., without any furrows or ridges in the palms and fingers).Results:
Cytogenetic analysis (GTG-banding) revealed an unbalanced female karyotype with additional bands at the end of the long arm of chromosome 10, karyotype: 46,XX,dup(10)(q25q26).Conclusion:
According to the banding pattern it is most likely that a duplication of the distal part of the long arm of chromosome 10 occurred.Key Words: Trisomy, 10q, Distal, de novo 相似文献5.
Azadeh Shojaei Farkhondeh Behjati Reza Ebrahimzadeh-Vesal Maryam Razzaghy-Azar Pupak Derakhshandeh-Peykar Pantea Izadi Abdol-Mohammad Kajbafzadeh Mohammad-Ali Dowlatih Fatemeh Karami Javad Tavakkoly-Bazzaz 《Gene》2014
Androgen receptor gene mutations are one of the leading causes of disorders of sex development (DSD) exhibited by sexual ambiguity or sex reversal. In this study, 2 families with patients whom diagnosed clinically as androgen insensitivity syndrome (AIS) were physically and genetically examined. This evaluation carried out by cytogenetic and molecular analysis including karyotype and sequencing of SRY and AR genes. In family 1, two brothers and their mother were hemizygous and heterozygous respectively for c.2522G > A variant, while one of their healthy brother was a completely normal hemizygote. Family 2 assessment demonstrated the c.639G > A (rs6152) mutation in two siblings who were reared as girls. The SRY gene was intact in all of the study's participants. 相似文献
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