Abstract:
:Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, or cellular metabolism. Due to the underlying clinical and molecular heterogeneity, the diagnostic work-up of CL patients is often challenging. In this review, we provide a practical approach to the broad differential diagnosis of CL syndromes, provide an overview of the molecular pathogenesis of the different subtypes, and suggest general management guidelines.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Beyens A,Boel A,Symoens S,Callewaert Bdoi
10.1111/cge.13865subject
Has Abstractpub_date
2021-01-01 00:00:00pages
53-66issue
1eissn
0009-9163issn
1399-0004journal_volume
99pub_type
杂志文章,评审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::Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12683
更新日期:2016-04-01 00:00:00
abstract::We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort. The most fre...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12692
更新日期:2016-09-01 00:00:00
abstract::This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possess...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00467.x
更新日期:1984-01-01 00:00:00
abstract::The concurrence of a short arm isochromosome and a translocation of the entire long arm of the same chromosome to a telomere of another chromosome, implying trisomy for 4p, 5p, 7p, 9p, 10p or 12p, has been described in 13 patients. We have now used fluorescence in situ hybrization (FISH) to better characterize one of ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.550209.x
更新日期:1999-02-01 00:00:00
abstract::Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII families. The responsible genotype was identified in 96% of the families (24/25) with 10 novel pathogenic variants: c.13...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12738
更新日期:2016-05-01 00:00:00
abstract::Apolipoprotein B (apoB) signal peptide (sp) polymorphism was characterized by polymerase chain reaction in blood samples of 58 coronary artery disease (CAD) patients and 319 control individuals of Chinese Han ethnic origin in Taiwan. In the CAD group, 77% of the observed alleles were sp27 (sp with 27 amino acids), and...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04150.x
更新日期:1994-05-01 00:00:00
abstract::Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5-fold increase in Pep A activity over that of the control fibroblasts. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02856.x
更新日期:1988-09-01 00:00:00
abstract::A familial autosomal recessive form of isolated renal magnesium loss is presented. Two children in this family suffered from convulsions unrelated to hypomagnesemia. Magnesium infusion studies revealed a lowered threshold but a normal tubular maximum for magnesium. In contrast to two families with the autosomal domina...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03157.x
更新日期:1987-12-01 00:00:00
abstract::Forty-two children out of 20 sibships with autosomal recessive polycystic kidney disease were observed pro- and retrospectively over a mean period of 3.7 years in a long-term study on cystic kidney diseases in children. The intra- and interfamilial variability in terms of age at diagnosis, administration of antihypert...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1995.tb04305.x
更新日期:1995-05-01 00:00:00
abstract::Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the manage...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.620512.x
更新日期:2002-11-01 00:00:00
abstract::One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible association between premature parental MI (before age 61 years in mothers and/or before age 56 years in fathers) and an insertion/deletion (I/D) polymorphism i...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03904.x
更新日期:1993-12-01 00:00:00
abstract::Two hundred and thirty-five survivors of myocardial infarction (MI) were compared to 384 controls with respect to distribution of genotypes and gene frequencies in the A1166C polymorphism at the angiotensin II type 1 receptor (AT1R) locus. No differences in allele frequencies or genotype distribution were observed whe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1997.tb02521.x
更新日期:1997-08-01 00:00:00
abstract::Autosomal dominant EEC syndrome consists of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (CL/P). We investigated an EEC kindred with 10 affected persons in three generations in order to map the causative mutation in this family and to map modifier genes that contribute to the expressi...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2004.00287.x
更新日期:2004-09-01 00:00:00
abstract::Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12745
更新日期:2016-08-01 00:00:00
abstract::Low density lipoprotein (LDL) receptor activity, measured as 125I-LDL association and degradation at 37 degrees C, was determined in cultured fibroblasts from involved as well as uninvolved skin obtained from 20 psoriasis patients. The same analyses were conducted in fibroblasts from two reference groups consisting of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb01983.x
更新日期:1984-03-01 00:00:00
abstract::A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase commensurate with heterozygosity for the classical metachromatic leukodystrophy gene, the father had a vari...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb02133.x
更新日期:1978-10-01 00:00:00
abstract::Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a nov...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13528
更新日期:2019-06-01 00:00:00
abstract::An analysis was performed on 40 families at risk for an unbalanced rearrangement in the fetus because one of the parents is a reciprocal translocation carrier. The overall risk at second trimester prenatal diagnosis was 14% (8/57). The individual risk for unbalanced offspring at second trimester prenatal diagnoses and...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb03274.x
更新日期:1996-03-01 00:00:00
abstract::We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fun...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03297.x
更新日期:1987-11-01 00:00:00
abstract::Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb02900.x
更新日期:1989-01-01 00:00:00
abstract::Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardati...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00792.x
更新日期:1984-07-01 00:00:00
abstract::Germline mutations (eg, BRCA1/2) have prognostic and treatment implications for ovarian cancer (OVCA) patients. Thus, national guidelines recommend genetic testing for OVCA patients. The present study examines patterns and predictors of genetics referral in OVCA patients. Electronic medical record data were abstracted...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13654
更新日期:2020-02-01 00:00:00
abstract::Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases not only the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indica...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12421
更新日期:2015-05-01 00:00:00
abstract::The dentin sialophosphoprotein (DSPP) gene encodes the most abundant non-collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the DSPP gene have been solely related to non-syndromic form of hereditary dentin ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01483.x
更新日期:2011-04-01 00:00:00
abstract::More than 80% of the first degree relatives of 106 patients with iron overload - 97 with idiopathic haemochromatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H. - were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relati...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01324.x
更新日期:1977-05-01 00:00:00
abstract::This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that t...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1994.tb04035.x
更新日期:1994-06-01 00:00:00
abstract::Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common inherited kidney disease that causes end-stage renal disease and kidney failure. Preimplantation genetic testing for monogenic (PGT-M) can effectively prevent the transmission of genetic diseases from parents to the offspring before pre...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13871
更新日期:2021-02-01 00:00:00
abstract::We utilized a sample of 299 adult females aged between 19 and 86 years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of th...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12347
更新日期:2015-02-01 00:00:00
abstract::Details are presented of a boy with partial lipodystrophy. Only one male case has previously been described with this condition. The spectrum of partial lipodystrophy syndromes and the inheritance thereof are discussed in relation to our case. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03602.x
更新日期:1990-11-01 00:00:00