scholarly journals CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Binbin Wang ◽  
Taoyun Ji ◽  
Xueya Zhou ◽  
Jing Wang ◽  
Xi Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Sex Differentiation ◽  
Chinese Children ◽  
Parental Contribution

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

2010 ◽  
Vol 32 (3) ◽  
pp. 248-252 ◽  
Author(s):  
Antonietta Coppola ◽  
Pasquale Striano ◽  
Stefania Gimelli ◽  
Clotilde Ciampa ◽  
Lia Santulli ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Pharmacoresistant Epilepsy

scholarly journals Selective ancestral sorting and de novo evolution in the agricultural invasion of Amaranthus tuberculatus

2021 ◽  
Author(s):  
Julia M. Kreiner ◽  
Amalia Caballero ◽  
Stephen I. Wright ◽  
John R. Stinchcombe
Keyword(s):  
De Novo ◽  
Sequence Data ◽  
Sex Differentiation ◽  
Common Garden ◽  
Whole Genome Sequence ◽  
Secondary Contact ◽  
Natural Environments ◽  
Relative Role ◽  
Standing Variation ◽  
Amaranthus Tuberculatus

The relative role of hybridization, de novo evolution, and standing variation in weed adaptation to agricultural environments is largely unknown. In Amaranthus tuberculatus, a widespread North American agricultural weed, adaptation is likely influenced by recent secondary contact and admixture of two previously isolated subspecies. We characterized the extent of adaptation and phenotypic differentiation accompanying the spread of A. tuberculatus into agricultural environments and the contribution of subspecies divergence. We generated phenotypic and whole-genome sequence data from a manipulative common garden experiment, using paired samples from natural and agricultural populations. We found strong latitudinal, longitudinal, and sex differentiation in phenotypes, and subtle differences among agricultural and natural environments that were further resolved with ancestry-based inference. The transition into agricultural environments has favoured southwestern var. rudis ancestry that leads to higher biomass and environment-specific phenotypes: increased biomass and earlier flowering under reduced water availability, and reduced plasticity in fitness-related traits. We also detected de novo adaptation to agricultural habitats independent of ancestry effects, including marginally higher biomass and later flowering in agricultural populations, and a time to germination home advantage. Therefore, the invasion of A. tuberculatus into agricultural environments has drawn on adaptive variation across multiple timescales—through both preadaptation via the preferential sorting of var. rudis ancestry and de novo local adaptation.

scholarly journals A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

1997 ◽  
Vol 34 (9) ◽  
pp. 772-776 ◽  
Author(s):  
T Cai ◽  
D A Tagle ◽  
X Xia ◽  
P Yu ◽  
X X He ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo

Comprehensive profile of cytogenetics in 2308 Chinese children and adults with de novo acute myeloid leukemia

2012 ◽  
Vol 49 (2) ◽  
pp. 107-113 ◽  
Author(s):  
Xin Li ◽  
Xiaoqing Li ◽  
Wei Xie ◽  
Yanjie Hu ◽  
Juan Li ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
De Novo ◽  
Chinese Children ◽  
Acute Myeloid

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

2011 ◽  
Vol 54 (1) ◽  
pp. 94-96 ◽  
Author(s):  
S. Gimelli ◽  
P. Makrythanasis ◽  
C. Stouder ◽  
S.E. Antonarakis ◽  
A. Bottani ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cleft Palate ◽  
High Myopia ◽  
De Novo ◽  
Severe Mental Retardation
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