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41.
A Register‐Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin 下载免费PDF全文
42.
Cynthia Gagnon Isabelle Lessard Bernard Brais Isabelle Côté Caroline Lavoie Matthis Synofzik Jean Mathieu 《Archives of physical medicine and rehabilitation》2018,99(9):1747-1754
Objective
To document in adults affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) the intra- and interrater reliability, standard error of measurement, agreement, minimal detectable change, and construct validity of the 9-Hole Peg Test (NHPT), the Standardized Finger-to-Nose Test (SFNT), and grip strength.Design
Metrologic study.Setting
Neuromuscular rehabilitation clinic.Participants
Genetically confirmed adult patients with ARSACS (N=42; 21 women; mean age, 38.6y).Interventions
Not applicable.Main Outcome Measures
Intra- and interrater reliability was determined using the intraclass correlation coefficient (ICC). Construct validity was determined by assessing the capacity of the NHPT, the SFNT, and grip strength to distinguish between participants based on sex, mobility stages, and age groups, and on performance on the Archimedes spiral and fast alternating hand movements tests.Results
All 3 tests have shown excellent reliability (ICC=.90–.98). However, the limit of agreement was influenced by the participant’s performance on the NHPT, and the minimal detectable change was very different for both hands (right=9.7 vs left=28.0). Construct validity was confirmed for the SFNT and NHPT, but it was not demonstrated for grip strength.Conclusions
Given the metrologic properties assessed in this study, the SFNT is an excellent measure to assess upper limb coordination, whereas the NHPT must be used with caution. The grip strength is reliable but does not seem to reflect disease severity. 相似文献43.
Zhao Chen Jun-ling Wang Bei-sha Tang Zhan-fang Sun Yu-ting Shi Lu Shen Li-fang Lei Xiao-ming Wei Jing-jing Xiao Zheng-mao Hu Qian Pan Kun Xia Qing-yan Zhang Mei-zhi Dai Yu Liu Tetsuo Ashizawa Hong Jiang 《Neurobiology of aging》2013
Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene sequencing. Whole-exome sequencing was used to investigate 3 affected individuals with Joubert syndrome, nemaline myopathy, or spastic ataxia Charlevoix-Saguenay type. A list of known and novel candidate variants was identified for each causative gene. All variants were genetically verified by Sanger sequencing or quantitative polymerase chain reaction with the strategy of disease segregation in related pedigrees and healthy controls. The advantages of using next-generation sequencing to diagnose rare autosomal recessive neurologic Mendelian disorders characterized by genetic and phenotypic heterogeneity are demonstrated. A genetic diagnostic strategy combining the use of targeted gene sequencing and whole-exome sequencing with the aid of next-generation sequencing platforms has shown great promise for improving the diagnosis of neurologic Mendelian disorders. 相似文献
44.
Susanne Krämer James Lucas Francisca Gamboa Miguel Peñarrocha Diago David Peñarrocha Oltra Marcelo Guzmán-Letelier Sanchit Paul Gustavo Molina Lorena Sepúlveda Ignacio Araya Rubén Soto Carolina Arriagada Anne W Lucky Jemima E Mellerio Roger Cornwall Fatimah Alsayer Reinhard Schilke Mark Adam Antal Fernanda Castrillón Camila Paredes Maria Concepción Serrano Victoria Clark 《Special care in dentistry》2020,40(Z1):3-81
45.
Wael Abdo Hassan Naoka Udaka Akihiko Ueda Yukio Ando Takaaki Ito 《International journal of clinical and experimental pathology》2015,8(6):7533-7539
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common heritable causes of stroke and dementia in adults. The gene involved in the pathogenesis of CADASIL is Notch3; in which mutations affect the number of cysteine residues in its extracellular domain, causing its accumulation in small arteries and arterioles of the affected individuals. Besides the usual neurological and vascular findings that have been well-documented in CADASIL patients, this paper additionally reports multiple neoplastic lesions that were observed in an autopsy case of CADASIL patient; that could be related to Notch3 mutation. The patient was a 62 years old male, presented with a past history of neurological manifestations, including gait disturbance and frequent convulsive attacks. He was diagnosed as CADASIL syndrome with Notch3 Arg133Cys mutation. He eventually developed hemiplegia and died of systemic convulsions. Autopsy examination revealed-besides the vascular and neurological lesions characteristic of CADASIL- multiple neoplastic lesions in the body; carcinoid tumorlet and diffuse idiopathic pulmonary neuro-endocrine cell hyperplasia (DIPNECH) in the lungs, renal cell carcinoma (RCC), prostatic adenocarcinoma (ADC) and adenomatoid tumor of the epididymis. This report describes a spectrum of neoplastic lesions that were found in a case of CADASIL patient that could be related to Notch3 gene mutations. 相似文献
46.
47.
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations 下载免费PDF全文
48.
New recessive truncating mutation in LTBP3 in a family with oligodontia,short stature,and mitral valve prolapse 下载免费PDF全文
49.
S. Fahiminiya M. Almuriekhi Z. Nawaz A. Staffa P. Lepage R. Ali L. Hashim J. Schwartzentruber K. Abu Khadija S. Zaineddin H. Gamal J. Majewski T. Ben‐Omran 《Clinical genetics》2014,86(2):134-141
Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to identify disease‐causing genes in consanguineous families in Qatar. Seventeen consanguineous families with diverse disorders were recruited. Initial mutation screening of known genes related to the clinical diagnoses did not reveal the causative mutations. Using WES approach, we identified the definitive disease‐causing mutations in four families: (i) a novel nonsense homozygous (c.1034C>G) in PHKG2 causing glycogen storage disease type 9C (GSD9C) in a male with initial diagnosis of GSD3; (ii) a novel homozygous 1‐bp deletion (c.915del) in NSUN2 in a male proband with Noonan‐like syndrome; (iii) a homozygous SNV (c.1598C>G) in exon 11 of IDUA causing Hurler syndrome in a female proband with unknown clinical diagnosis; (iv) a de novo known splicing mutation (c.1645+1G>A) in PHEX in a female proband with initial diagnosis of autosomal recessive hypophosphatemic rickets. Applying WES as a diagnostic tool led to the unambiguous identification of disease‐causing mutations in phenotypically complex disorders or correction of the initial clinical diagnosis in ?25% of our cases. 相似文献
50.
I. Filges E. Nosova E. Bruder S. Tercanli K. Townsend W.T. Gibson B. Röthlisberger K. Heinimann J.G. Hall C.Y. Gregory‐Evans W.W. Wasserman P. Miny J.M. Friedman 《Clinical genetics》2014,86(3):220-228
Gene discovery using massively parallel sequencing has focused on phenotypes diagnosed postnatally such as well‐characterized syndromes or intellectual disability, but is rarely reported for fetal disorders. We used family‐based whole‐exome sequencing in order to identify causal variants for a recurrent pattern of an undescribed lethal fetal congenital anomaly syndrome. The clinical signs included intrauterine growth restriction (IUGR), severe microcephaly, renal cystic dysplasia/agenesis and complex brain and genitourinary malformations. The phenotype was compatible with a ciliopathy, but not diagnostic of any known condition. We hypothesized biallelic disruption of a gene leading to a defect related to the primary cilium. We identified novel autosomal recessive truncating mutations in KIF14 that segregated with the phenotype. Mice with autosomal recessive mutations in the same gene have recently been shown to have a strikingly similar phenotype. Genotype–phenotype correlations indicate that the function of KIF14 in cell division and cytokinesis can be linked to a role in primary cilia, supported by previous cellular and model organism studies of proteins that interact with KIF14. We describe the first human phenotype, a novel lethal ciliary disorder, associated with biallelic inactivating mutations in KIF14. KIF14 may also be considered a candidate gene for allelic viable ciliary and/or microcephaly phenotypes. 相似文献