Abstract:
:Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA probe and for associated CATCH features. The patients were from genetic counseling (n = 15) or fetopathology (n = 3) of the Clinical Genetics Department in Marburg and from the Pediatric Cardiology Department (n = 22) in Mainz. Monosomy 22q11 was detected in 9 cases (= 22.5%). Familial transmission with one mildly affected parent and one affected sib each was proven in two cases. The CCVDs comprised complex conotruncal defects such as tetralogy of Fallot, double outlet right ventricle, transposition of great arteries and truncus arteriosus communis, or anomalies of the derivatives of the branchial arch arteries in association with a ventricular septal defect, including one case of atresia of the ductus arteriosus with pulmonary artery aneurysm and resulting in fetal hydrops. All 13 patients with a deletion of 22q11 showed at least one additional CATCH symptom. Most consistently, facial dysmorphy was apparent (92%), while hypocalcemia, mostly at threshold values, was present in 62% and thymic hypoplasia including borderline low T-lymphocyte numbers was observed in 41%. None of the patients presented with a cleft palate. A high intrafamilial variability in expression was also evident with respect to the CCVD. Our findings indicate that seemingly isolated complex cardiovascular defects associated with a 22q11 microdeletion most probably do not represent a distinct subgroup within the CATCH-22 complex but are syndromal in nature with extracardiac features that are often overlooked.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Mehraein Y,Wippermann CF,Michel-Behnke I,Nhan Ngo TK,Hillig U,Giersberg M,Aulepp U,Barth H,Fritz B,Rehder Hdoi
10.1007/s004390050385subject
Has Abstractpub_date
1997-04-01 00:00:00pages
433-42issue
4eissn
0340-6717issn
1432-1203journal_volume
99pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Swiss albino male mice were administered two doses (1 and 2 HA units) of influenza A2 Hong Kong/68 virus IP. The incidence of chromosomal anomalies in spermatocytes was analysed at various times post infection and was found to be significantly higher than in controls, indicating that the influenza virus had induced th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286960
更新日期:1978-12-18 00:00:00
abstract::Mucopolysaccharidosis IVA (MPS IVA) is caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase encoded by the GALNS gene on chromosome 16. We describe, in detail, the clinical phenotype of five patients from three unrelated Finnish families and have characterized the disease-causing ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0959-8
更新日期:2003-07-01 00:00:00
abstract::Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenoty...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1702-6
更新日期:2016-11-01 00:00:00
abstract::The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in o...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1779-6
更新日期:2017-06-01 00:00:00
abstract::A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220458
更新日期:1992-12-01 00:00:00
abstract::Restriction fragment length polymorphism haplotyping of mutated and normal phenylalanine hydroxylase (PAH) alleles in 49 Dutch phenylketonuria (PKU) families was performed. All mutant PAH chromosomes identified by haplotyping (n = 98) were screened for eight of the most predominant mutations. Compound heterozygosity w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00420944
更新日期:1993-12-01 00:00:00
abstract::The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic seq...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02265305
更新日期:1992-03-01 00:00:00
abstract::Angelman syndrome is a neuro-developmental disorder caused by genetic abnormalities affecting the maternal gene expression in the chromosome region 15q11-q13. In a study group of 45 Finnish Angelman patients, a recurrence of a del(15)(q11q13) was detected in one family. The mother's chromosomes 15 were structurally no...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000336
更新日期:2000-07-01 00:00:00
abstract::Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance. On the finger tips the Mb. Wilson...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00296148
更新日期:1976-02-29 00:00:00
abstract::Schwannomas may develop sporadically or in association with NF2 and schwannomatosis. The fundamental aberration in schwannomas is the bi-allelic inactivation of the NF2 gene. However, clinical and molecular data suggest that these tumors share a common pathogenetic mechanism related to as yet undefined 22q-loci. Linka...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0002-3
更新日期:2005-10-01 00:00:00
abstract::Results obtained so far on the C3 polymorphism suggest that the system should be a valuable marker in population studies. The instability of the complement component C3 may, however, cause some practical problems in population genetic fieldwork, since a certain fraction of serum samples may be difficult to type with c...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00286844
更新日期:1976-08-30 00:00:00
abstract::Dystrophin mRNA transcripts from the P (Purkinje) promoter were shown to be differentially expressed in human skeletal muscle, heart, and brain. The expression pattern was characteristic of tissue type and developmental stage. Polymerase chain reaction (PCR) analysis of the P promoter transcripts in adult skeletal mus...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02265272
更新日期:1996-02-01 00:00:00
abstract::In an attempt to investigate beta-globin gene polymorphism in the Saudi population, DNA samples were analysed using restriction endonucleases, Mst II and Hpa I. Both beta A and beta S genes showed extensive polymorphism and were found to be linked to 13.0 kb, 7.6 kb, 7.0 kb, and 5.6 kb Hpa I fragments. Three DNA sampl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282555
更新日期:1986-11-01 00:00:00
abstract::Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050227
更新日期:1996-10-01 00:00:00
abstract::Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous. In an attempt to determine t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050625
更新日期:1997-12-01 00:00:00
abstract::Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1140-z
更新日期:2012-07-01 00:00:00
abstract::To help unravel some of the early Eurasian steppe migration movements, we determined the Y-chromosomal and mitochondrial haplotypes and haplogroups of 26 ancient human specimens from the Krasnoyarsk area dated from between the middle of the second millennium BC. to the fourth century AD. In order to go further in the ...
journal_title:Human genetics
pub_type: 历史文章,杂志文章
doi:10.1007/s00439-009-0683-0
更新日期:2009-09-01 00:00:00
abstract::We previously identified a low-frequency (1.1 %) coding variant (G45R; rs200573126) in the adiponectin gene (ADIPOQ) which was the basis for a multipoint microsatellite linkage signal (LOD = 8.2) for plasma adiponectin levels in Hispanic families. We have empirically evaluated the ability of data from targeted common ...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-014-1511-8
更新日期:2015-02-01 00:00:00
abstract::PTEN is one of the most frequently mutated tumor suppressor genes in human cancers. Mutations occur in either heritable or sporadic fashion. Sequencing of cDNA from patients and normal individuals often reveals splicing variants (SVs) of PTEN, some of which are non-mutation related. To investigate whether these SVs we...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0886-4
更新日期:2010-12-01 00:00:00
abstract::Basal levels of C-reactive protein (CRP) have been associated with disease, particularly future cardiovascular events. Twin studies estimate 50% CRP heritability, so the identification of genetic variants influencing CRP expression is important. Existing studies in populations of European ancestry have identified nume...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0517-5
更新日期:2008-07-01 00:00:00
abstract::To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1108-8
更新日期:2004-06-01 00:00:00
abstract::Five DNA probes known to originate from the region 7q22-q31 were sublocalized by in situ hybridization to metaphase preparations of fibroblasts having besides a normal chromosome 7, a homologue 7 with an apparent interstitial deletion of a large part of band q22. A flow cytometric chromosome analysis confirmed a loss ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00702861
更新日期:1988-10-01 00:00:00
abstract::The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00205179
更新日期:1990-11-01 00:00:00
abstract::Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxyl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291569
更新日期:1984-01-01 00:00:00
abstract::Recently, the human orthologue to the cell cycle checkpoint genes rad17 (Schizosaccharomyces pombe) and RAD24 (Saccharomyces cerevisiae), called HRAD17, has been isolated and localized to chromosome 4. Independently, we have isolated the HRAD17 transcript and mapped it to chromosome 5q13 between the CCNB1 and BTF2p44c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900067
更新日期:1999-07-01 00:00:00
abstract::We have studied the allele frequency distribution of the microsatellite locus DYS19 in several populations with different geographical origins worldwide. Three new alleles were found. In addition, remarkable geographic and ethnic differences were observed in the allele frequency profiles and DNA marker (gene) diversit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02185760
更新日期:1996-03-01 00:00:00
abstract::A single base substitution is responsible for the PI-Z mutation in alpha-1-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with this primer, a restri...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201739
更新日期:1991-10-01 00:00:00
abstract::The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral trad...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1583-0
更新日期:2015-09-01 00:00:00
abstract::Plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase or chitinase (CHIT) might play a role in degrading the chitin wall of some microorganisms. In about 6% of Caucasian people the enzyme shows pseudodeficiency (defined as very low activity without apparent symptoms). We have mapped this locus by linkage a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050615
更新日期:1997-12-01 00:00:00
abstract::CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing. Carrier detection analysis was then performed by polymerase chain reaction/direct sequenc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF01213104
更新日期:1991-05-01 00:00:00