Abstract:
:To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22ql1.2 was found in 180 (98%) of the patients with CAFS by fluorescence in situ hybridization (FISH) using the N25(D22S75) DiGeorge critical region (DGCR) probe. No hemizygosity was found in three (2%) of the patients with CAFS by FISH using nine DiGeorge critical region probes and a SD1OP1 probe (DGA II locus). None of these three patients had mental retardation and just one had nasal intonation, which was observed in almost all of the 180 CAFS patients who carried deletions (mental retardation, 92%; nasal voice, 88%). Nineteen of 143 families (13%) had familial CAFS and 16 affected parents (84%) were mothers. Although only two of the affected parents had cardiovascular anomalies, the deletion size in the 16 affected parents and their affected family members, who were studied by FISH analysis, was the same. It indicates that extragenic factors may play a role in the genesis of phenotypic variability, especially in patients with cardiovascular anomalies. No familial cases were found among CAFS patients with absent thymus/DiGeorge anomaly (DGA). Also, in all 18 CAFS patients with completely absent thymus/DGA and all 6 CAFS patients with schizophrenia, it was revealed that the deletion was longer distally. A study of the origin of the deletion using microsatellite analyses in 48 de novo patients showed that in 65% of CAFS patients it was maternal, while in 64% of DGA patients it was paternal. The findings of this study indicated that CAF was almost always associated with the deletion of 22ql1.2. As well as the major features of the syndrome, other notable extracardiac anomalies were found to be susceptibility to infection, schizophrenia, atrophy or dysmorphism of the brain, thrombocytopenia, short stature, facial palsy, anal atresia, and mild limb abnormalities.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Matsuoka R,Kimura M,Scambler PJ,Morrow BE,Imamura S,Minoshima S,Shimizu N,Yamagishi H,Joh-o K,Watanabe S,Oyama K,Saji T,Ando M,Takao A,Momma Kdoi
10.1007/s004390050786subject
Has Abstractpub_date
1998-07-01 00:00:00pages
70-80issue
1eissn
0340-6717issn
1432-1203journal_volume
103pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285390
更新日期:1983-01-01 00:00:00
abstract::Although microsatellite typing is the dominant method in genome research and indirect gene diagnosis, precise relationships of exonic and adjacent simple repeat polymorphisms are not known. We investigated exon 2 sequences of HLA-DRB1 genes and their neighbouring (GT)n(GA)m repeats including the intervening single cop...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050379
更新日期:1997-03-01 00:00:00
abstract::DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273844
更新日期:1987-01-01 00:00:00
abstract::We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often ass...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1257-4
更新日期:2005-07-01 00:00:00
abstract::SNP rs9939609 within the fat mass and obesity associated gene (FTO) is strongly associated with adult body mass index (BMI). However, influences of FTO on longitudinal BMI change from childhood to adulthood have not been examined. Knowledge is limited on FTO, modulating the association between birth weight and longitu...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0883-7
更新日期:2010-12-01 00:00:00
abstract::Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for it...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1332-x
更新日期:2005-10-01 00:00:00
abstract::Haptoglobin types were determined on 211 patients with leukemia of the four most common types: acute lymphatic (ALL), chronic lymphatic (CLL), acute myeloid (AML), and chronic myeloid leukemia (CML). Frequency distributions of the three common Hp types in patients differed significantly from the control population. A ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00401236
更新日期:1986-07-01 00:00:00
abstract::The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02428295
更新日期:1990-09-01 00:00:00
abstract::To develop a general method for analysis of the mutation and prenatal diagnosis of X-linked hyper-IgM syndrome (XHM), the human CD40 ligand (hCD40L) gene was cloned and sequenced with special reference to the 5' and 3' flanking regions and exon/intron boundaries. The hCD40L gene consists of five exons and four introns...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02265262
更新日期:1996-02-01 00:00:00
abstract::Infertility affects 10% of reproductive-age women and is extremely heterogeneous in etiology. The genetic contribution to female infertility is incompletely understood, and involves chromosomal and single-gene defects. Our aim in this study is to decipher single-gene causes in infertile women in whom endocrinological,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02143-5
更新日期:2020-05-01 00:00:00
abstract::DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191796
更新日期:1995-10-01 00:00:00
abstract::New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes, but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in 40 cases (82%) the mutation arose on the paternally derived allele. We ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050531
更新日期:1997-09-01 00:00:00
abstract::Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1880-5
更新日期:2018-05-01 00:00:00
abstract::Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1436-2
更新日期:2014-07-01 00:00:00
abstract::Although several studies have demonstrated familial aggregation of nonsyndromic cleft palate (CP), the mode of inheritance still remains uncertain. We report the results of complex segregation analysis performed in families of 357 consecutive newborns affected with nonsyndromic CP (i.e., CP not a component feature of ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050491
更新日期:1997-08-01 00:00:00
abstract::A case of ring chromosome 15 passed on to the index patient's two children is reported, and possible reasons for the infrequent records of inheritance of ring chromosome are suggested. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283630
更新日期:1987-07-01 00:00:00
abstract::The X-linked cyclin-dependent kinase-like 5 (CDKL5) gene is an important molecular determinant of early-onset intractable seizures with infantile spasms and Rett syndrome-like phenotype. The gene encodes a kinase that may influence components of molecular pathways associated with MeCP2. In humans there are two previou...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1058-x
更新日期:2012-02-01 00:00:00
abstract::Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by virtue of the typical a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00230212
更新日期:1993-03-01 00:00:00
abstract::The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050264
更新日期:1996-11-01 00:00:00
abstract::While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsy...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1901-4
更新日期:2018-07-01 00:00:00
abstract::In the Original article published, the figure number 5: Genomic distribution of ROH is incorrectly published. The correct figure is given below. ...
journal_title:Human genetics
pub_type: 已发布勘误
doi:10.1007/s00439-019-02053-1
更新日期:2019-10-01 00:00:00
abstract::The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00702867
更新日期:1988-10-01 00:00:00
abstract::ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), encodes a protein involved in axon guidance in brain development (hence the other name leucine-rich repeat domain- and immunoglobulin domain-containing axon extension proteins; LINX). A recently described mouse knockout displays hydrocephalus. Howeve...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1963-3
更新日期:2019-01-01 00:00:00
abstract::A modified technique has been developed for the visualization of the chromosomes in human sperm. The cytogenetic analysis of 129 G-banded human sperm metaphases of 6 normal donors showed an incidence of structural and numerical chromosome abnormalities of 7.8%. Two out of 129 spermatozoa were aneuploid (1.6%). The fre...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272450
更新日期:1987-08-01 00:00:00
abstract::While liability to schizophrenia (Scz) is due to genetic and environmental factors, specific factors are largely unknown. We postulate a two-hit model for Scz, in which initial liability is generated during fetal brain development: this "hit" is precipitated by environmental stressors biologically interacting with mat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0358-7
更新日期:2007-07-01 00:00:00
abstract::The karyotype of leukemic cells was studied in 88 acute nonlymphocytic leukemia (ANLL) patients. Chromosome abnormalities were discovered in 78.4% of all patients and in 72.5% of the 69 patients studied before treatment. Characteristic abnormalities: translocations 8;21, 15;17, 9;22 or 6;9, rearrangements of 11q, gain...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291604
更新日期:1986-06-01 00:00:00
abstract::The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease (PD), but no mutations have been identified in genes encoding complex I subunits. Recent studies have suggested that polymorphisms in mitochondrial DNA (mtDNA)-encoded complex I genes (M...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1123-9
更新日期:2004-06-01 00:00:00
abstract::The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272299
更新日期:1978-01-19 00:00:00
abstract::The arbitrarily primed-PCR (AP-PCR) genomic fingerprinting method was applied to evaluate its effectiveness in detecting and characterizing amplified DNA fragments in two small-cell lung carcinoma (SCLC) cell lines, NCI-H69 and NCI-H82. Of the 2428 DNA fragments detected by AP-PCR using 62 arbitrary primers, 2 (0.08%)...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050203
更新日期:1996-09-01 00:00:00
abstract::We have determined the subchromosomal location of the human insulin gene by analyzing DNA isolated from sorted human metaphase chromosomes. Metaphase chromosome suspensions were sorted into fractions according to relative Hoechst fluorescence intensity by the fluorescence activated chromosome sorter. The chromosomal D...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281255
更新日期:1982-01-01 00:00:00