Abstract:
:To evaluate the potential contribution of mutations in the BRCA1 and BRCA2 genes to male breast cancer (MBC), we expanded a previous study to screen a total of 261 Israeli men diagnosed with breast carcinoma. A total of 21 BRCA2 6174delT and 8 BRCA1 185delAG mutations were found. Similar frequencies of BRCA1 and BRCA2 mutation carriers were found among Ashkenazi (12.8%) and non-Ashkenazi Jews (9.1%). The combined prevalence of BRCA1/BRCA2 founder mutations among Ashkenazi Jewish men is slightly higher than for women, due to a higher frequency of BRCA2 mutations.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Chodick G,Struewing JP,Ron E,Rutter JL,Iscovich Jdoi
10.1016/j.ejmg.2007.11.001subject
Has Abstractpub_date
2008-03-01 00:00:00pages
141-7issue
2eissn
1769-7212issn
1878-0849pii
S1769-7212(07)00118-8journal_volume
51pub_type
杂志文章abstract::Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial g...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2017.12.003
更新日期:2018-04-01 00:00:00
abstract:BACKGROUND:Pathogenic variants in the BCOR gene have been identified in males with X-linked recessive microphthalmia and in females with X-linked dominant oculofaciocardiodental (OFCD) syndrome. This latter condition has previously been regarded as rare but the increased availability of genetic testing in recent years ...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.04.015
更新日期:2020-02-01 00:00:00
abstract::We report here a 44 years-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichtyosis and glomerulonephritis, carrying a 10 Mb duplication of the chromosome 5q31.3-5q32.1 region detected by array-CGH. ...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2011.01.005
更新日期:2011-05-01 00:00:00
abstract::Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.02.004
更新日期:2010-05-01 00:00:00
abstract::We report on an 8(1)/(2)-year-old girl with severe pre- and postnatal growth retardation, congenital heart malformation, facial asymmetry, oculocutaneous albinism without misrouting and subluxation of the radial heads. Her intelligence was in the low normal range. By GTG-banding a deletion of band 15q26 was found. Arr...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2007.08.003
更新日期:2007-11-01 00:00:00
abstract::Trinucleotide repeat disorders (TRDs) are a set of genetic disorders caused by trinucleotide repeat expansion in certain genes that exceed the normal, stable threshold, which varies from gene to gene. A dynamic mutation in a healthy gene may increase the repeat count and result in a defective gene. At present there ar...
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::Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrom...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.03.011
更新日期:2018-10-01 00:00:00
abstract::Mental retardation (MR) is the most frequent cause of serious handicap in children and young adults. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Linkage studies followed by mutational analysis of known X-chromosomal genes related to mental retardation (MRX gene...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2011.01.010
更新日期:2011-05-01 00:00:00
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 c...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2005.01.015
更新日期:2006-01-01 00:00:00
abstract::Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phe...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.05.019
更新日期:2019-02-01 00:00:00
abstract::Chromosomal imbalance of the 17q12 region (which includes the HNF1B transcription factor) has recently emerged as a frequent condition. 17q12 deletion was found in patients with various renal abnormalities, diabetes mellitus (MODY type 5), genital tract or liver test abnormalities, while 17q12 duplication was identifi...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2011.03.010
更新日期:2011-07-01 00:00:00
abstract::Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and th...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2017.06.007
更新日期:2017-09-01 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
abstract::Prenatal testing for fetal genetic traits and risk of obstetrical complications is essential for maternal-fetal healthcare. The migration of extravillous trophoblast (EVT) cells from the placenta into the reproductive tract and accumulation in the cervix offers an exciting avenue for prenatal testing and monitoring pl...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2019.103690
更新日期:2019-08-01 00:00:00
abstract::Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p2...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2012.10.008
更新日期:2013-01-01 00:00:00
abstract::HNF1B gene anomalies include renal development defects associated with cysts and are well known by pediatric nephrologists that ask for molecular analysis of this gene. Two types of genomic rearrangements are reported: mutation and more frequently deletion. Using microsatellites or CGH array the size of the deletion w...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2012.12.002
更新日期:2013-02-01 00:00:00
abstract::We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heter...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2008.10.004
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test an...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2020.104001
更新日期:2020-09-01 00:00:00
abstract::Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and intellectual disability. The molecular basis of ZLS is unknown. Most patients are sporadic, although familial aggregation is also observed with differen...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2013.08.004
更新日期:2013-10-01 00:00:00
abstract::Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the a...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.04.003
更新日期:2019-01-01 00:00:00
abstract::Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile o...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2012.10.010
更新日期:2013-01-01 00:00:00
abstract::Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign co...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2014.08.010
更新日期:2014-11-01 00:00:00
abstract::We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an e...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2009.02.002
更新日期:2009-03-01 00:00:00
abstract::Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adul...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2017.07.008
更新日期:2017-10-01 00:00:00
abstract::Cobalamin (cbl) C disease is a rare autosomal recessive inheritance disease, which is the most common cobalamin metabolic disorder. Its clinical phenotype involves multiple systems with varying degrees of severity, where in mild cases can be asymptomatic for many years, whereas severe cases may cause death during the ...
journal_title:European journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1016/j.ejmg.2019.103713
更新日期:2019-10-01 00:00:00
abstract::X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two pati...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.08.003
更新日期:2010-11-01 00:00:00
abstract::We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in add...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2010.03.009
更新日期:2010-07-01 00:00:00
abstract::We report a 21-year-old patient with speech problems, autistic traits, dysmorphic facial features, broad thumbs with short distal phalanges and a pancreatic gastrinoma. Array-CGH demonstrated a 0.57 Mb de novo deletion in chromosome 11q13.1. The deleted region contains several genes which likely contribute to the pati...
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
abstract::Evidence has emerged that assisted reproduction technology (ART) may be associated with an increased risk of congenital malformations, low birth weight, and genetic imprinting disorders. The aim of the study was to determine, the prevalence of major malformations in newborns conceived by standard in vitro fertilizatio...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2005.01.019
更新日期:2005-01-01 00:00:00
abstract::Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal ...
journal_title:European journal of medical genetics
pub_type: 杂志文章
doi:10.1016/j.ejmg.2018.01.005
更新日期:2018-06-01 00:00:00