Abstract:
:Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respectively. Here we describe two patients with a clinical diagnosis of TNDM caused by LOM at the maternally methylated imprinted domain on 6q24; in addition, these patients had LOM at the centromeric differentially methylated region of 11p15.5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Mackay DJ,Hahnemann JM,Boonen SE,Poerksen S,Bunyan DJ,White HE,Durston VJ,Thomas NS,Robinson DO,Shield JP,Clayton-Smith J,Temple IKdoi
10.1007/s00439-005-0127-4keywords:
subject
Has Abstractpub_date
2006-03-01 00:00:00pages
179-84issue
1-2eissn
0340-6717issn
1432-1203journal_volume
119pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27 beta), in several cell lineages derived from females belonging to a pedigree with X-linked immunodeficiency with hyper-IgM (HIGM1). Non-random X-chromosome inactivation was demonstrated in T cells, B cells, an...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206059
更新日期:1991-12-01 00:00:00
abstract::The most commonly accepted view about the origin of aneuploidy is that it is due to errors in meiotic division. However, its rare occurrence makes it difficult to explain recurrent births of trisomic children to some parents. This problem causes more serious concern when one accepts that an abnormal (n + 1 or n - 1) s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286609
更新日期:1984-01-01 00:00:00
abstract::The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis. We here report on a patient with severe NF1 showing at RT-...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1009-2
更新日期:2003-11-01 00:00:00
abstract::The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin g...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00211021
更新日期:1994-11-01 00:00:00
abstract::Three families are reported showing transmission of a previously described variant, which is not associated with any clinical abnormality. The variant involves additional material at the band 9p12, which shows homogeneous staining of intermediate density with GTL- and RBG-banding, and negative staining with CBG-bandin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00288273
更新日期:1989-04-01 00:00:00
abstract::It is shown by discontinuous sodium dodecylsulfate (SDS) polyacrylamide gel electrophoresis of human red cell membranes, followed by periodic acid Schiff (PAS) staining and densitometry, that the band PAS-3 (monomeric Ss glycoprotein) exhibits a polymorphism with respect to its staining intensity. In membranes of the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291494
更新日期:1976-05-19 00:00:00
abstract::We describe a novel mutation in the delta globin gene of a compound heterozygote for delta o thalassemia and a deletion type G gamma + (A gamma delta beta) zero thalassemia. The delta was amplified using the polymerase chain reaction (PCR), and the amplified material was used in a direct sequencing experiment. The nuc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274153
更新日期:1989-08-01 00:00:00
abstract::Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. S...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1269-0
更新日期:2005-05-01 00:00:00
abstract::Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C----T or G----A transitions, which thus occur within coding regions at a frequency 42-f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278187
更新日期:1988-02-01 00:00:00
abstract::Pediatric cataracts are observed in 1-15 per 10,000 births with 10-25 % of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to con...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-013-1289-0
更新日期:2013-07-01 00:00:00
abstract::A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)). ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00390443
更新日期:1977-04-07 00:00:00
abstract::Recent studies have suggested that polymorphisms of the androgen receptor gene ( AR) may influence the risk of prostate cancer (PC) development and progression. Here, we analyzed the length of the CAG repeat of the AR gene in 1363 individuals, including patients with PC, benign prostate hyperplasia (BPH), and populati...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0776-5
更新日期:2002-08-01 00:00:00
abstract::The effect of treatment with 8-methoxypsoralen (8-MOP) plus near-UV radiation (UVA) or with X-rays on the rate of DNA semi-conservative synthesis of fibroblasts from 10 Fanconi anemia (FA), two heterozygous, and three normal cell lines was studied. Following treatments with either X-rays or low doses of 8-MOP plus UVA...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273448
更新日期:1985-01-01 00:00:00
abstract::Lesch-Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar phenotypes across differ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0901-9
更新日期:2011-01-01 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::Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1889-9
更新日期:2018-05-01 00:00:00
abstract::Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lowe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271168
更新日期:1981-01-01 00:00:00
abstract::Bardet-Biedl syndrome (BBS) is a rare oligogenic disorder exhibiting both clinical and genetic heterogeneity. Although the BBS phenotype is variable both between and within families, the syndrome is characterized by the hallmarks of developmental and learning difficulties, post-axial polydactylia, obesity, hypogenital...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0197-y
更新日期:2006-09-01 00:00:00
abstract::Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species (ROS). Because chronic exposure to excess ROS may contribute to vascular damage, we investigated whether genetic variation in catalase was associated with susceptibi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100553
更新日期:2001-07-01 00:00:00
abstract::Meckel-Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital encephalocele, polydactyly and biliary dysgenesis. MKS is genetically heterogeneous with three loci mapped and two identified; MKS1 (17q23) and MKS3 (8q22.1). MKS1 is part of the Finnish disease ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0341-3
更新日期:2007-06-01 00:00:00
abstract::The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitiv...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283735
更新日期:1988-12-01 00:00:00
abstract::Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0408-1
更新日期:2007-11-01 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::Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1039-9
更新日期:2004-01-01 00:00:00
abstract::A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00200916
更新日期:1991-07-01 00:00:00
abstract::Sphingolipid activator protein (SAP) deficiency, previously described in two sibs and shown to be caused by the absence of the common saposin precursor (prosaposin), was further characterized by biochemical lipid and enzyme studies and by ultrastructural analysis. The 20-week-old fetal sib had increased concentrations...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00219682
更新日期:1993-09-01 00:00:00
abstract::The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293880
更新日期:1984-01-01 00:00:00
abstract::Congenital atrichia is a rare autosomal recessive disorder of hair development, characterized by complete loss of hair shortly after birth. Evidence of linkage to chromosome 8p12 has been established, implicating the human homolog of the mouse hairless (hr) gene as a candidate gene. We have previously identified misse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050840
更新日期:1998-10-01 00:00:00
abstract::The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4; CD 152) is a negative regulator of T-lymphocyte activation. Particular genotypes of the locus encoding the CTLA-4 glycoprotein have been associated with susceptibility to various autoimmune diseases. To determine their role in susceptibility to systemic lupus er...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0807-2
更新日期:2002-10-01 00:00:00
abstract::The homeodomain transcription factors (TFs) Pax6 (OMIM: 607108) and Prox1 (OMIM: 601546) critically regulate gene expression in lens development. While PAX6 mutations in humans can cause cataract, aniridia, microphthalmia, and anophthalmia, among other defects, Prox1 deletion in mice causes severe lens abnormalities, ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02195-7
更新日期:2020-12-01 00:00:00