Abstract：
:An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Cabrera-Serrano M,Fabian VA,Boutilier J,Wise C,Faiz F,Lamont PJ,Laing NGdoi
10.1111/cge.12552subject
Has Abstractpub_date
2015-12-01 00:00:00pages
573-8issue
6eissn
0009-9163issn
1399-0004journal_volume
88pub_type
杂志文章abstract：:The genetic mechanisms driving normal brain development remain largely unknown. We performed genomic and immunohistochemical characterization of a novel, fatal human phenotype including extreme microcephaly with cerebral growth arrest at 14-18 weeks gestation in three full sisters born to healthy, non-consanguineous p...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12197
更新日期：2014-05-01 00:00:00
abstract：:The frequency of rare fragile sites was studied among 240 children in special schools for subnormal intelligence (IQ 52-85). 1/130 boys studied (0.8%) had the fragile site at Xq27.3 while it was not found in any girl (0/110). In two children an autosomal rare fragile site at 2q11.2 (2/240, 0.8%) was seen. In addition ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1986.tb00601.x
更新日期：1986-09-01 00:00:00
abstract：:A Sicilian family is reported in which 36 individuals, in 5 successive generations, were affected with congenital cataracts, microcornea and myopia with an autosomal pattern of inheritance. ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1985.tb01216.x
更新日期：1985-07-01 00:00:00
abstract：:Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function w...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1983.tb00449.x
更新日期：1983-05-01 00:00:00
abstract：BACKGROUND:Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. METHODS:Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2009.01294.x
更新日期：2010-04-01 00:00:00
abstract：:The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual dis...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/cge.13127
更新日期：2019-02-01 00:00:00
abstract：:An extra G-positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G-staining. ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1992.tb03654.x
更新日期：1992-03-01 00:00:00
abstract：:Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1984.tb01090.x
更新日期：1984-11-01 00:00:00
abstract：:It has been suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual meas...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1980.tb00120.x
更新日期：1980-02-01 00:00:00
abstract：:Kidney and urinary tract malformations are among the most frequent developmental defects identified in newborns. Ranging from asymptomatic to neonatal lethal, these malformations represent an important clinical challenge. Recent progress in understanding the developmental origin of urinary tract defects in the mouse a...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.2009.01175.x
更新日期：2009-04-01 00:00:00
abstract：:From a large cohort of hyperlipidemic patients, who attended the Lipid Research Clinic in Amsterdam, The Netherlands and in Vancouver, Canada, 915 consecutive patients with familial hypercholesterolemia (FH) of Dutch descent, were selected. This group of FH patients was screened for the presence of a cytosine to thymi...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：
更新日期：1992-12-01 00:00:00
abstract：:A 26-week gestation, premature neonate who developed a transient myeloproliferative disorder is presented. The morphological features of Down syndrome were not obvious at this gestational age, and the cytogenetic studies gave a misleading normal karyotype after the infant received non-irradiated blood. The diagnosis o...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1995.tb04087.x
更新日期：1995-10-01 00:00:00
abstract：:Female heterozygotes for the fragile X syndrome show variable levels of mental handicap from normal to severely retarded. The degree to which they are affected may depend upon whether the fragile or the normal X chromosome is preferentially inactivated, but one of the problems with the use of BUdR for the study of Lyo...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1989.tb03362.x
更新日期：1989-07-01 00:00:00
abstract：:The physician-patient relationship was governed for centuries by the ethical principle of beneficence and the physician's dedication to the principle of doing no harm. This structure shifted, however, to the principle of personal autonomy as medical and surgical knowledge expanded and patients, rather than physicians,...
journal_title：Clinical genetics
pub_type： 历史文章,杂志文章,评审
doi：10.1111/j.1399-0004.2004.00324.x
更新日期：2005-01-01 00:00:00
abstract：:Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2009.01323.x
更新日期：2010-04-01 00:00:00
abstract：:Neurofibromatosis-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndrome, which are separate syndromes. Potential etiologies of NFNS include a discrete syndrome of distinct etiology, co-segregation of two mutated common genes, var...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2006.00576.x
更新日期：2006-03-01 00:00:00
abstract：:A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15 (4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1978.tb04136.x
更新日期：1978-05-01 00:00:00
abstract：:The ability or inability to taste the compound phenylthiocarbamide (PTC) is a classic inherited trait in humans and has been the subject of genetic and anthropological studies for over 70 years. This trait has also been shown to correlate with a number of dietary preferences and thus may have important implications fo...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.2004.00361.x
更新日期：2005-04-01 00:00:00
abstract：:In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.2002.620205.x
更新日期：2002-08-01 00:00:00
abstract：:A sample of psychotic and prepsychotic twins is presented, based on 9000 patients born during 1930--1946 and admitted to psychiatric departments in Scania, Sweden, during the 1960's. All twins of the same sex (76 pairs) were registered and their records examined. Twenty-three complete pairs, where one or both twins sh...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1981.tb00728.x
更新日期：1981-05-01 00:00:00
abstract：:A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive biotin-labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 i...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：
更新日期：1992-05-01 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：:Disorders of the Ras/mitogen-activated protein kinase (MAPK) pathway have an overlapping skeletal phenotype (e.g. scoliosis, osteopenia). The Ras proteins regulate cell proliferation and differentiation and neurofibromatosis type 1 (NF1) individuals have osteoclast hyperactivity and increased bone resorption as measur...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2010.01619.x
更新日期：2011-12-01 00:00:00
abstract：:Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is not sufficient to reliably predict vestibular function. Here we pres...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.13868
更新日期：2021-02-01 00:00:00
abstract：:Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semile...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1034/j.1399-0004.2000.580510.x
更新日期：2000-11-01 00:00:00
abstract：:Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia. Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. Here, we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12273
更新日期：2014-09-01 00:00:00
abstract：:We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1997.tb02542.x
更新日期：1997-09-01 00:00:00
abstract：:The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings ...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1034/j.1399-0004.2000.580601.x
更新日期：2000-12-01 00:00:00
abstract：:We assessed the association between breast cancer (BC) and colorectal cancer (CRC) from referral pattern to the Regional Genetics Service including molecular analysis. Hospital computer records and/or department referral books were used to identify cases referred to the Regional Genetic Service during a 16-year period...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2006.00698.x
更新日期：2006-11-01 00:00:00
abstract：:The symptomatic treatment of dopa-responsive dystonia (DRD) emphasizes the importance of molecular analyses of the GCH-1, TH and parkin genes. However, these analyses have not been extensively studied in Chinese DRD patients. Ten DRD families from the Han ethnic group including 14 patients and 28 clinically unaffected...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2008.01039.x
更新日期：2008-12-01 00:00:00
