Review of "A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation."

2015 ◽  
Author(s):  
Thomas Liehr
Keyword(s):  
De Novo ◽  
Marker Chromosome ◽  
Phenotype Correlation ◽  
Partial Duplication ◽  
Genotype Phenotype Correlation ◽  
Duplication Syndrome

scholarly journals MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Shinsuke Onuma ◽  
Tamaki Wada ◽  
Ryosuke Araki ◽  
Kazuko Wada ◽  
Kanako Tanase-Nakao ◽  
...  
Keyword(s):  
Japanese Patient ◽  
De Novo ◽  
Missense Variant ◽  
Phenotype Correlation ◽  
Gain Of Function ◽  
Limited Knowledge ◽  
Genotype Phenotype Correlation ◽  
Adrenal Hypoplasia

AbstractMIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype correlation. We herein report a Japanese patient with MIRAGE syndrome carrying a novel de novo heterozygous missense variant in the SAMD9 gene (c.4435 G > T; p.Ala1479Ser).

scholarly journals Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion

2020 ◽  
Vol 10 (7) ◽  
pp. 451
Author(s):  
Manuela Lo Bianco ◽  
Davide Vecchio ◽  
Tiziana A. Timpanaro ◽  
Alessia Arena ◽  
Marina Macchiaiolo ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Scientific Literature ◽  
De Novo ◽  
Congenital Defects ◽  
Phenotype Correlation ◽  
Intermediate Area ◽  
Neurodevelopmental Delay ◽  
Skeletal Malformations ◽  
Genotype Phenotype Correlation ◽  
Inverted Duplication

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype–phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient’s features with those reported in other patients, which allows us to place our proband’s expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype–phenotype relationship.

scholarly journals Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e100483 ◽  
Author(s):  
Xiuhong Pang ◽  
Yongchuan Chai ◽  
Lianhua Sun ◽  
Dongye Chen ◽  
Ying Chen ◽  
...  
Keyword(s):  
De Novo ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Gjb2 Mutations

scholarly journals A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Haitian Nan ◽  
Hiroshi Shiraku ◽  
Tomoko Mizuno ◽  
Yoshihisa Takiyama
Keyword(s):  
Japanese Patient ◽  
De Novo ◽  
Complex Form ◽  
Review Of The Literature ◽  
Spastic Paraplegia ◽  
Phenotype Correlation ◽  
Spastic Paralysis ◽  
Hereditary Spastic Paraplegias ◽  
Genotype Phenotype Correlation ◽  
Complicated Form

Abstract Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP), and is rarely associated with a complicated form that includes ataxia, epilepsy, and cognitive decline. To date, the genotype-phenotype correlation has not been substantially established for SPAST mutations. Case presentation We present a Japanese patient with infantile-onset HSP and a complex form with coexisting ataxia and epilepsy. The sequencing of SPAST revealed a de novo c.1496G > A (p.R499H) mutation. A review of the literature revealed 16 additional patients with p.R499H mutations in SPAST associated with an early-onset complicated form of HSP. We found that the complicated phenotype of patients with p.Arg499His mutations could be mainly divided into three subgroups: (1) infantile-onset ascending hereditary spastic paralysis, (2) HSP with severe dystonia, and (3) HSP with cognitive impairment. Moreover, the c.1496G > A mutation in SPAST may occur as a de novo variant at noticeably high rates. Conclusion We reviewed the clinical features of the patients reported in the literature with the p.Arg499His mutation in SPAST and described the case of a Japanese patient with this mutation presenting a new complicated form. Accumulating evidence suggests a possible association between infantile-onset complicated HSP and the p.Arg499His mutation in SPAST. The findings of this study may expand the clinical spectrum of the p.Arg499His mutation in SPAST and provide an opportunity to further study the genotype-phenotype correlation of SPG4.

scholarly journals The Role of Microtubule Associated Serine/Threonine Kinase 3 Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association

2022 ◽  
Vol 14 ◽  
Author(s):  
Li Shu ◽  
Neng Xiao ◽  
Jiong Qin ◽  
Qi Tian ◽  
Yanghui Zhang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Large Scale ◽  
De Novo ◽  
Sequencing Data ◽  
Phenotype Correlation ◽  
Serine Threonine Kinase ◽  
Zebrafish Model ◽  
Threonine Kinase ◽  
Missense Variants ◽  
Genotype Phenotype Correlation

Objective: To prove microtubule associated serine/threonine kinase 3 (MAST3) gene is associated with neurodevelopmental diseases (NDD) and the genotype-phenotype correlation.Methods: Trio exome sequencing (trio ES) was performed on four NDD trios. Bioinformatic analysis was conducted based on large-scale genome sequencing data and human brain transcriptomic data. Further in vivo zebrafish studies were performed.Results: In our study, we identified four de novo MAST3 variants (NM_015016.1: c.302C > T:p.Ser101Phe; c.311C > T:p.Ser104Leu; c.1543G > A:p.Gly515Ser; and c.1547T > C:p.Leu516Pro) in four patients with developmental and epileptic encephalopathy (DEE) separately. Clinical heterogeneities were observed in patients carrying variants in domain of unknown function (DUF) and serine-threonine kinase (STK) domain separately. Using the published large-scale exome sequencing data, higher CADD scores of missense variants in DUF domain were found in NDD cohort compared with gnomAD database. In addition, we obtained an excess of missense variants in DUF domain when compared autistic spectrum disorder (ASD) cohort with gnomAD database, similarly an excess of missense variants in STK domain when compared DEE cohort with gnomAD database. Based on Brainspan datasets, we showed that MAST3 expression was significantly upregulated in ASD and DEE-related brain regions and was functionally linked with DEE genes. In zebrafish model, abnormal morphology of central nervous system was observed in mast3a/b crispants.Conclusion: Our results support the possibility that MAST3 is a novel gene associated with NDD which could expand the genetic spectrum for NDD. The genotype-phenotype correlation may contribute to future genetic counseling.

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

2015 ◽  
Vol 146 (1) ◽  
pp. 39-43 ◽  
Author(s):  
Elisa Tassano ◽  
Alessandra Gamucci ◽  
Maria E. Celle ◽  
Patrizia Ronchetto ◽  
Cristina Cuoco ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Language Impairment ◽  
Array Cgh ◽  
De Novo ◽  
Phenotype Correlation ◽  
Molecular Cytogenetic ◽  
Genotype Phenotype Correlation ◽  
Cytogenetic Characterization ◽  
Inducible Gene

Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on GADD45A (MIM 126335; growth arrest- and DNA damage-inducible gene), LRRC7 (MIM 614453; leucine-rich repeat-containing protein 7), and NEGR1 (MIM 613173; neuronal growth regulator 1). We discuss whether these genes play a role in determining the phenotype of our patient in order to investigate the possibility of a genotype-phenotype correlation.

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