Abstract:
:Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong minority fitness of heterozygotes is increased. This review will be devoted to a consideration of the extent to which heterozygotes for a wide variety of nominally recessive diseases are subject either to an increased liability for common diseases or slight shifts of behavioral characteristics. The available evidence has been collected and will be discussed in three steps: Most studies are available for phenylketonuria. For this group of diseases, a slight reduction of average--especially verbal--I.Q. in heterozygotes has been reported together with signs of a slightly increased cerebral irritability, a possible slight increase of risk for mental disease, and an increase of blood phenylalanine levels in stress situations. The PKU example is used to discuss methodological problems involved in such studies. Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia- teleangiectasia (increased cancer risk). Since heterozygotes for autosomal recessive diseases are common, it is possible that an appreciable fraction of "multifactorial" genetic liabilities for common, "constitutional" or mental disease might simply be due to heterozygosity for genes whose homozygous affects are already well known. By the same token, much of the "normal" genetic variability influencing cognitive performance (I.Q.)--especially in the lower range--and personality characteristics could also be caused by recessive genes in the heterozygous state.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Vogel Fsubject
Has Abstractpub_date
1984-05-01 00:00:00pages
381-415issue
5eissn
0009-9163issn
1399-0004journal_volume
25pub_type
杂志文章,评审abstract::We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 2...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12759
更新日期:2016-07-01 00:00:00
abstract::The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1993.tb03823.x
更新日期:1993-06-01 00:00:00
abstract::Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3'-untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2000.570112.x
更新日期:2000-01-01 00:00:00
abstract::We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosai...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb02988.x
更新日期:1991-01-01 00:00:00
abstract::Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies which cause syncope and sudden death. LQT1, due to mutations of KCNQ1 (KVLQT1), is the most common form. This study describes the genotype-phenotype characteristics in 10 families with mutations of KCNQ1, including 5 novel mutations. One hundr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2003.00048.x
更新日期:2003-04-01 00:00:00
abstract::Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical cha...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01287.x
更新日期:2010-02-01 00:00:00
abstract::The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. W...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12856
更新日期:2017-04-01 00:00:00
abstract::Population-based genetic screening has been a mainstay of public health in the United States for many years. The goal of genetic screening is to identify individuals at increased risk for treatable diseases. The evolution of genetic testing to include multi-disease panels allows for new screening applications which ch...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12566
更新日期:2015-12-01 00:00:00
abstract::In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their conto...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01354.x
更新日期:1979-12-01 00:00:00
abstract::A 6-year-old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother follow...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00498.x
更新日期:1984-06-01 00:00:00
abstract::Cystic fibrosis in the northern sector of the French "département" of Finistère is 1:1787 live births. Within this sector a concentration of the disease was found in a small area. The minimal frequency in this area, from 1946 to 1972, was calculated as 1 per 377 live births, the gene frequency being 0.0515. Genealogic...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb02108.x
更新日期:1978-08-01 00:00:00
abstract::To evaluate whether the CF carrier status has any lasting effect on anxiety and on self-concept at least 1 year after the disclosure of the test result, an in-depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmati...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb03779.x
更新日期:1996-05-01 00:00:00
abstract::Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosoma...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13152
更新日期:2018-03-01 00:00:00
abstract::An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this s...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12325
更新日期:2015-01-01 00:00:00
abstract::Fibroblast low density lipoprotein (LDL) plasma membrane receptor activity, measured as 125I-LDL association (plasma membrane binding plus intracellular accumulation) and degradation was determined in cell strains from 14 monozygotic (MZ) and 21 like-sexed dizygotic (DZ) normolipidemic twin pairs. The twins were betwe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1981-08-01 00:00:00
abstract::This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Wor...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12989
更新日期:2017-12-01 00:00:00
abstract::This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13542
更新日期:2020-01-01 00:00:00
abstract::Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00692.x
更新日期:1981-03-01 00:00:00
abstract::On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologicall...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01287.x
更新日期:1977-02-01 00:00:00
abstract::Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, includ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12531
更新日期:2015-09-01 00:00:00
abstract::Previous research and clinical experience suggest that Huntington's disease (HD) can considerably affect family life, particularly for young people (YP) at risk. The goal of this study was to describe the experiences of YP from families affected by HD. YP were identified through the regional genetics clinic and the Sc...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00702.x
更新日期:2007-02-01 00:00:00
abstract::Finding the genetic determinants of intermediate quantitative traits, such as serum creatinine and urea, might aid in finding the determinants of disease phenotypes, such as renal failure, that are, in part, defined according to threshold values imposed upon such traits. We evaluated the association between common var...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.550607.x
更新日期:1999-06-01 00:00:00
abstract::SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 1...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13210
更新日期:2018-05-01 00:00:00
abstract::The cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis is reported. G-banded chromosomes of cultured peripheral blood lymphocytes of one subject had a constitutional chromosomal translocation, t(7;13)(p22;q21). No constitutional chromosome abnormality was found in any of the other 22 Japan...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb03950.x
更新日期:1995-03-01 00:00:00
abstract::Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 pati...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2005.00411.x
更新日期:2005-04-01 00:00:00
abstract::Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12616
更新日期:2016-03-01 00:00:00
abstract::We recently described a complex multisystem syndrome in which mild-moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Seven family mem...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13217
更新日期:2018-05-01 00:00:00
abstract::A unique substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen was identified in a proband with Ehlers-Danlos syndrome type IV. The substitution was due to the transition of G 3302 to A in alpha 1(III) cDNA which is encoded by exon 46 of COL3A1. It resulted in a severe deficien...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02709.x
更新日期:1996-12-01 00:00:00
abstract::Malignant hyperthermia (MH)-related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes. We ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12508
更新日期:2015-10-01 00:00:00
abstract::In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb00054.x
更新日期:1976-12-01 00:00:00