Abstract：
:Genetics has marked the second half of the 20th century by addressing such formidable problems as the identification of our genes and their role, their interaction with the environment, and even their therapeutic uses. The identification of genes raises questions about differences between humans and non-humans, as well as about the evolution towards trans-humanism and post-humanism. In practise, however, the main question concerns the limits of prenatal genetic diagnosis, not only on account of the seriousness of the affections involved but also because of the choice to be made between following-up the medical indication and engaging in a systematic public health strategy aimed at eliminating children with certain handicaps. History reminds us that genetic science has already been misused by political forces influenced by the ideas of eugenics, particularly in the Nazi period. We may wonder whether it is reasonable to formulate a judgement on the life of a child yet to be born, merely on the basis of a DNA analysis. My experience as a practising geneticist and my involvement in French politics forces me to stress the dangers of a new eugenics hiding behind a medical mask. As demonstrated by epigenetics, human beings cannot be reduced to their DNA alone. In our society, one of the problems concerns individuals whose lives may be considered by some as simply not worth living. Another problem is the place and the social significance of the handicapped amongst us. Fortunately, recent progresses in gene therapy, biotherapy, and even pharmacology, appear to be opening up promising therapeutic perspectives. We should bear in mind that the chief vocation of medical genetics, which fully belongs to the art of medicine, is to heal and to cure. This is precisely where genetics should concentrate its efforts software.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Mattei JFdoi
10.1016/j.ejmg.2012.05.007subject
Has Abstractpub_date
2012-10-01 00:00:00pages
503-9issue
10eissn
1769-7212issn
1878-0849pii
S1769-7212(12)00177-2journal_volume
55pub_type
杂志文章abstract：:Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with two children affected with AMC. First child had a severe AMC phenotype and died in infancy. Second child, currently 4-years-old, was ascertained at the age of ...
journal_title：European journal of medical genetics
pub_type： 杂志文章,评审
doi：10.1016/j.ejmg.2019.103756
更新日期：2020-03-01 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：:Osteogenesis imperfecta is a heritable connective tissue disorder characterized by variable symptoms including predisposition to fractures. Despite the identification of numerous mutations, a reliable genotype-phenotype correlation has remained notoriously difficult. We now describe two patients with osteogenesis impe...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2013.10.002
更新日期：2013-12-01 00:00:00
abstract：:Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no si...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2013.10.007
更新日期：2014-01-01 00:00:00
abstract：:Although the thalidomide tragedy occurred more than 50 years ago, the medication is still being used worldwide for different reasons, and several aspects regarding its teratogenicity remain unsolved. Despite the strict regulation implemented, new cases of thalidomide embryopathy (TE) are still being registered in Braz...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2016.09.015
更新日期：2017-01-01 00:00:00
abstract：:Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks. In this report, we described two patients with different heterozygote mutations in TNFRSF1A. Patient 1, a 15-year-old male, had suffered from recur...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2019.103780
更新日期：2020-04-01 00:00:00
abstract：:Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England ...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2018.05.012
更新日期：2018-09-01 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：:The Beckwith-Wiedemann syndrome is caused by disturbed imprinting of genes at 11p15.5. Routine diagnostic testing for Beckwith-Wiedemann syndrome (BWS) includes methylation analysis of the imprinting centers ICR1 and ICR2 in DNA extracted from lymphocytes. In approximately 15% of BWS patients the diagnosis cannot be m...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2014.03.011
更新日期：2014-05-01 00:00:00
abstract：:Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal m...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2013.12.001
更新日期：2014-01-01 00:00:00
abstract：:Human infertility is a healthcare problem that has a worldwide impact. Genetic causes of human infertility include chromosomal aneuploidies and rearrangements and single-gene defects. The sex chromosomes (X and Y) are critical players in human fertility since they contain several genes essential for sex determination ...
journal_title：European journal of medical genetics
pub_type： 杂志文章,评审
doi：10.1016/j.ejmg.2018.10.012
更新日期：2019-09-01 00:00:00
abstract：INTRODUCTION:Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients. M...
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
abstract：:Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2017.10.018
更新日期：2018-02-01 00:00:00
abstract：:Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most common causes of sudden cardiac death (SCD) during childhood and in adolescence. Trans-2, 3-enoyl-CoA reductase-like (Tecrl) gene mutations (Arg196Gln and c.331+1G > A splice site mutation) were first reported in CPVT. Tecrl homozygous c.3...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2019.01.018
更新日期：2019-07-01 00:00:00
abstract：:Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Bar...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2017.10.006
更新日期：2018-01-01 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：:The EEF1A2 gene encodes eukaryotic translation elongation factor 1α2, an integral component of the elongation factor complex. Heterozygous pathogenic variants in EEF1A2 are associated with neurodevelopmental disorders characterized by epilepsy, global developmental delay, and autism. To date, dilated cardiomyopathy ha...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2020.104121
更新日期：2021-01-01 00:00:00
abstract：:Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise...
journal_title：European journal of medical genetics
pub_type： 杂志文章,评审
doi：10.1016/j.ejmg.2013.01.010
更新日期：2013-04-01 00:00:00
abstract：:We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previo...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2018.03.009
更新日期：2018-08-01 00:00:00
abstract：:The psychomotor and somatic development from early childhood into adult life is described in a man with 46,XY,r(8)/46,XY mosaicism. The ring chromosome 8 appeared to be of normal length on G-banding, but terminal deletions on 8q and 8p were detected with FISH and CGH. By STR marker analysis the 8p deletion proved to b...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2005.08.004
更新日期：2006-07-01 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：:Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies. Here we describe two maternal ha...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2020.104097
更新日期：2021-01-01 00:00:00
abstract：:Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WN...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2017.09.005
更新日期：2017-12-01 00:00:00
abstract：:Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c.115 C > T (p.Gln39*)] in a girl with severe neonatal onset epile...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2020.103970
更新日期：2020-09-01 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：:Intellectual disability (ID) comprises a vast collection of clinically diverse and genetically heterogeneous disorders characterized primarily by central nervous system defects of varying severity with or without additional dysmorphic, metabolic, neuromuscular or psychiatric features. Much progress has been made to el...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2010.06.006
更新日期：2010-09-01 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：: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：:"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping c...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2016.05.007
更新日期：2016-06-01 00:00:00
abstract：:Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillbor...
journal_title：European journal of medical genetics
pub_type： 杂志文章
doi：10.1016/j.ejmg.2010.07.005
更新日期：2010-09-01 00:00:00
