Abstract:
:The aim of this study was to investigate through direct sequencing the insulin receptor (INSR) gene in DNA samples from a migraine affected family previously showing linkage to chromosome 19p13 in an attempt to detect disease associated mutations. Migraine is a common debilitating disorder with a significant genetic component. At present, the number and type of genes involved in the common forms of migraine are not clear. The INSR gene on chromosome 19p13.3-13.2 is a gene of interest since a number of single nucleotide polymorphisms (SNPs) located within the gene have been implicated in migraine with (MA) and without aura (MO). Six DNA samples obtained from non-founding migraine affected members of migraine family 1 (MF1) were used in this study. Genomic DNA was sequenced for the INSR gene in exons 1-22 and the promoter region. In the six migraine family member samples, previously reported SNPs were detected within two exonic DNA coding regions of the INSR gene. These SNPs, in exons 13 and 17, do not alter the normal INSR polypeptide sequence. In addition, intron 7 also revealed a DNA base sequence variation. For the 5' untranslated promoter region of the gene, no mutations or polymorphisms were detected. In conclusion, this study detected no INSR mutations in affected members of a chromosome 19 linked migraine pedigree. Hence, migraine linkage to this chromosomal region may involve other candidate genes.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Curtain R,Tajouri L,Lea R,MacMillan J,Griffiths Ldoi
10.1016/j.ejmg.2005.01.015keywords:
subject
Has Abstractpub_date
2006-01-01 00:00:00pages
57-62issue
1eissn
1769-7212issn
1878-0849pii
S1769-7212(05)00021-2journal_volume
49pub_type
杂志文章abstract::Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications. The early establishment of a diagnostic of KS leads to better care of the patients and therefore prevents complications such as percep...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2013.07.005
更新日期:2013-10-01 00:00:00
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2012.10.010
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.11.012
更新日期:2019-11-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2021.104140
更新日期:2021-01-29 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2013.02.006
更新日期:2013-05-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.09.006
更新日期:2019-09-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2017.03.006
更新日期:2017-06-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2014.12.005
更新日期:2015-02-01 00:00:00
abstract::Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals fro...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.10.007
更新日期:2011-03-01 00:00:00
abstract:INTRODUCTION:Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP beco...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2017.01.003
更新日期:2017-04-01 00:00:00
abstract:PURPOSE:To investigate whether increased parental age is associated with an increased risk for de novo copy number variant (CNV) formation in offspring. METHODS:CNV calls from 2323 individuals referred to Signature Genomic Laboratories for clinical microarray-based comparative genomic hybridization were investigated; ...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103829
更新日期:2020-04-01 00:00:00
abstract::Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of isovaleryl-CoA derivatives to toxic levels results in clinical symptoms of the disease. Here, we investigate the clinical and molecular featur...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2012.08.001
更新日期:2012-12-01 00:00:00
abstract::Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome are two well-known geneti...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.104102
更新日期:2021-01-01 00:00:00
abstract::In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10; q10)c, have ∼2,700 increased ri...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2016.01.006
更新日期:2016-03-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 信件
doi:10.1016/j.ejmg.2011.04.006
更新日期:2011-07-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2008.10.007
更新日期:2009-01-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2020.103873
更新日期:2020-05-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2017.02.003
更新日期:2017-05-01 00:00:00
abstract::The SHANK3 protein is a scaffold protein known to stabilize metabotropic glutamate receptor mGluR5 in the post-synaptic membrane of neurons. It is associated with genetic vulnerability in autism and schizophrenia. Here we report the case of an 18 year-old male patient who displayed psychiatric features of bipolar affe...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2012.07.009
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103767
更新日期:2020-03-01 00:00:00
abstract::Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China, and prenatal diagnosis has not been performed so far. In this report, 8 patients (4 girls and 4 boys) with MSUD fr...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2015.10.002
更新日期:2015-11-01 00:00:00
abstract::Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. T...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2017.11.007
更新日期:2018-03-01 00:00:00
abstract::Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears. It is a principal anomaly derived from the first pharyngeal arch as a consequence of failed mesenchymal mig...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2010.09.002
更新日期:2010-11-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2007.07.002
更新日期:2007-11-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.11.005
更新日期:2011-03-01 00:00:00
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journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2014.12.010
更新日期:2015-03-01 00:00:00
abstract::We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unsp...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2011.12.001
更新日期:2012-02-01 00:00:00
abstract:BACKGROUND:The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to as LIS1) and YW...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.06.009
更新日期:2010-09-01 00:00:00