scholarly journals De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene

2011 ◽  
Vol 91 (9) ◽  
pp. 862-865 ◽  
Author(s):  
Benjamin D. Solomon ◽  
Daniel E. Pineda-Alvarez ◽  
Donald W. Hadley ◽  
Amelia A. Keaton ◽  
Nneamaka B. Agochukwu ◽  
...  
Keyword(s):  
Candidate Gene ◽  
De Novo ◽  
Esophageal Fistula ◽  
Cardiac Defects ◽  
Genitourinary Anomalies

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects

2018 ◽  
Vol 61 (5) ◽  
pp. 243-247 ◽  
Author(s):  
Tomoko Uehara ◽  
Toshiki Takenouchi ◽  
Rika Kosaki ◽  
Kenji Kurosawa ◽  
Seiji Mizuno ◽  
...  
Keyword(s):  
De Novo ◽  
Cardiac Defects ◽  
Phenotypic Spectrum

A novel de novo 2.5 Mb microdeletion of 7q22.1 harbours candidate gene for neurobehavioural disorders and mental retardation

2014 ◽  
Vol 93 (2) ◽  
pp. 501-503 ◽  
Author(s):  
VAIDAS DIRSE ◽  
BIRUTE BURNYTE ◽  
EGLE GINEIKIENE ◽  
LAIMONAS GRISKEVICIUS ◽  
ALGIRDAS UTKUS
Keyword(s):  
Mental Retardation ◽  
Candidate Gene ◽  
De Novo

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation

2002 ◽  
Vol 110 (3) ◽  
pp. 244-250 ◽  
Author(s):  
Tristan F. McMullan ◽  
John A. Crolla ◽  
Simon G. Gregory ◽  
Nigel P. Carter ◽  
Rachel A. Cooper ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Molecular Analysis ◽  
De Novo ◽  
Balanced Translocation

scholarly journals VACTERL association in the newborn

2014 ◽  
Vol 2 (02) ◽  
pp. 96-99
Author(s):  
Girish Gopal ◽  
Gangadhar B. Belavadi
Keyword(s):  
Chromosomal Abnormalities ◽  
Congenital Defects ◽  
Vacterl Association ◽  
Esophageal Fistula ◽  
Anal Atresia ◽  
Cardiac Defects

VACTERL association is a non-random association of birth (congenital) defects that affects multiple median and para-median structures. VACTERL association is a useful acronym to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). Atleast 3 or more defects must be present to make a diagnosis of this condition. Most of these cases occur sporadically, although few cases with chromosomal abnormalities have been reported. Herein, we report a newborn who had most of the defects seen in VACTERL association.

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

2014 ◽  
Vol 57 (11-12) ◽  
pp. 636-638 ◽  
Author(s):  
J.M. Cobben ◽  
M.M. Weiss ◽  
F.S. van Dijk ◽  
R. De Reuver ◽  
C. de Kruiff ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
De Novo ◽  
De Novo Mutation ◽  
Deletion Syndrome

scholarly journals Identification of a Candidate Gene for the Novel Cytoplasmic Male Sterility Derived from Inter-Subspecific Crosses in Rice (Oryza sativa L.)

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 590
Author(s):  
Zhuo Jin ◽  
Jeonghwan Seo ◽  
Backki Kim ◽  
Seung Young Lee ◽  
Hee-Jong Koh
Keyword(s):  
Oryza Sativa ◽  
Cytoplasmic Male Sterility ◽  
Candidate Gene ◽  
Male Sterility ◽  
Transmembrane Domain ◽  
De Novo ◽  
Oryza Sativa L ◽  
Functional Domain ◽  
Cms Line ◽  
Interaction Domains

Tetep-cytoplasmic male sterility (CMS) was developed through successive backcrosses between subspecies indica and japonica in rice (Oryza sativa L.), which showed abnormal anther dehiscence phenotypes. Whole genome sequencing and de novo assembly of the mitochondrial genome identified the chimeric gene orf312, which possesses a transmembrane domain and overlaps with two mitotype-specific sequences (MSSs) that are unique to the Tetep-CMS line. The encoded peptide of orf312 was toxic to Escherichia coli and inhibited cell growth compared to the control under isopropyl-β-D-1-thiogalactopyranoside (IPTG) induction. The peptide of orf312 contains COX11-interaction domains, which are thought to be a main functional domain for WA352c in the wild abortive (WA-CMS) line of rice. A QTL for Rf-Tetep (restorer-of-fertility gene(s) originating from Tetep) was identified on chromosome 10. In this region, several restorer genes, Rf1a, Rf1b, and Rf4, have previously been reported. Collectively, the interactions of orf312, a candidate gene for Tetep-CMS, and Rf-Tetep, a restorer QTL, confer male sterility and fertility restoration, respectively, which enables a hybrid rice breeding system. Further studies on orf312 and isolation of Rf-Tetep will help to identify the underlying molecular mechanism of mitochondrial ORFs with the COX11-interaction domains.

scholarly journals Facilitating candidate gene discovery in an emerging model plant lineage: Transcriptomic and genomic resources for Thalictrum (Ranunculaceae)

2020 ◽  
Author(s):  
Tatiana Arias ◽  
Diego Mauricio Riaño-Pachón ◽  
Verónica S. Di Stilio
Keyword(s):  
Candidate Gene ◽  
Candidate Genes ◽  
De Novo ◽  
Draft Genome ◽  
Gene Discovery ◽  
Population Level ◽  
Single Copy ◽  
Wind Pollination ◽  
Potential Candidate ◽  
Pollination Systems

ABSTRACTThe plant genus Thalictrum is a representative of the order Ranunculales (a sister lineage to all other Eudicots) with diverse floral morphologies, encompassing four sexual systems and two pollination modes. Previous studies suggest multiple transitions from insect to wind pollination within this genus, in association with polyploidy and unisexual flowers, but the underlying genes remain unknown. We generated a draft reference genome for Thalictrum thalictroides, a representative of a clade with ancestral floral traits (diploidy, hermaphroditism, and insect pollination) and a model for functional studies. To facilitate candidate gene discovery in flowers with different sexual and pollination systems we also generated floral transcriptomes of T. thalictroides and of wind-pollinated, andromonoecious (staminate and hermaphroditic flowers on the same plant) T. hernandezii.The T. thalictroides draft genome assembly consisted of 44,860 contigs (N50=12,761 bp. and 243 Mbp. total length) and contained 84.5% conserved embryophyte single-copy genes. Floral transcriptomes from Illumina sequencing and de novo assembly contained representatives of most eukaryotic core genes (approximately 80%), with most of their genes falling into common orthologous groups (orthogroups). Simple Sequence Repeat (SSR) motifs were also identified, which together with the single-copy genes constitute a resource for population-level or phylogenetic studies. Finally, to validate the utility of these resources, putative candidate genes were identified for the different floral morphologies using stepwise dataset comparisons. In conclusion, we present genomic and transcriptomic resources for Thalictrum, including the first genome of T. thalictroides and potential candidate genes for flowers with distinct sexual and pollination systems.

A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay

2018 ◽  
Vol 49 (06) ◽  
pp. 401-404 ◽  
Author(s):  
Korbinian Riedhammer ◽  
Reka Kovacs-Nagy ◽  
Thomas Meitinger ◽  
Julia Hoefele ◽  
Matias Wagner ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Developmental Delay ◽  
Hormonal Regulation ◽  
De Novo ◽  
Missense Variant ◽  
Global Developmental Delay ◽  
Monogenic Disorders ◽  
Strong Candidate ◽  
The Brain ◽  
Generation Sequencing

Many genetic and nongenetic causes for developmental delay in childhood could be identified. Often, however, the molecular basis cannot be elucidated. As next-generation sequencing is becoming more frequently available in a diagnostic context, an increasing number of genetic variations are found as causative in children with developmental delay.We performed trio exome sequencing in a girl with developmental delay and minor dysmorphological features. Using a filter for de novo variants, the heterozygous missense variant c.812A>T, p.(Glu217Val) was found in the candidate gene POU3F2 in our patient. POU3F2 plays an important role in neuronal differentiation and hormonal regulation. To date, it has not been associated with monogenic disorders. Studies on Pou3f2 knockout mice highlighted the importance of this protein in the development of the brain. Furthermore, microdeletions with an overlapping region including only POU3F2 and FBXL4 were linked to developmental delay in six unrelated families. Therefore, POU3F2 is a strong candidate gene for developmental delay, although functional assays proving this assumption still have to be done.

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