scholarly journals Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Muhammad Muzammal ◽  
Muhammad Zubair ◽  
Sophie Bierbaumer ◽  
Jasmin Blatterer ◽  
Ricarda Graf ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Founder Effect ◽  
Pakistani Families ◽  
Exome Sequence

scholarly journals Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

2019 ◽  
Vol 09 (02) ◽  
pp. 117-120
Author(s):  
Pavalan Selvam ◽  
Shekhar Singh ◽  
Angita Jain ◽  
Herjot Atwal ◽  
Paldeep S. Atwal
Keyword(s):  
Sequence Analysis ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Pathogenic Variants ◽  
Phenotypic Spectrum ◽  
Whole Exome ◽  
The Family ◽  
Type Xi Collagen ◽  
Exome Sequence

AbstractOtospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting from birth with a phenotype suggestive of OSMED. On whole exome sequence analysis of the family via commercially available methods, we detected two novel heterozygous pathogenic variants in the proband. In addition, we reviewed the phenotype of autosomal recessive OSMED cases with COL11A2 pathogenic variants reported to date and quantitatively highlighted the phenotypic spectrum.

13 Whole exome sequence analysis of canine transitional cell carcinoma of the bladder

2014 ◽  
Vol 50 ◽  
pp. 11 ◽  
Author(s):  
D.L. Duval ◽  
B. Hernandez ◽  
J. Brown ◽  
S.E. Lana ◽  
R. Page ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Transitional Cell Carcinoma ◽  
Cell Carcinoma ◽  
Transitional Cell ◽  
Whole Exome ◽  
Carcinoma Of The Bladder ◽  
Exome Sequence

scholarly journals Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia

2017 ◽  
Vol 82 (2) ◽  
pp. 88-92 ◽  
Author(s):  
Mariam M. Al Eissa ◽  
Alessia Fiorentino ◽  
Sally I. Sharp ◽  
Niamh L. O'Brien ◽  
Kate Wolfe ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Exome Sequence

scholarly journals Whole-exome Sequence Analysis Implicates Rare Il17REL Variants in Familial and Sporadic Inflammatory Bowel Disease

2016 ◽  
Vol 22 (1) ◽  
pp. 20-27 ◽  
Author(s):  
Mark M. Sasaki ◽  
Andrew D. Skol ◽  
Eric A. Hungate ◽  
Riyue Bao ◽  
Lei Huang ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Sequence Analysis ◽  
Bowel Disease ◽  
Whole Exome ◽  
Inflammatory Bowel ◽  
Exome Sequence

Putative driver mutations of Kaposiform hemangioendothelioma detected by exome sequence analysis

2017 ◽  
Vol 86 (2) ◽  
pp. e20
Author(s):  
Sho Egashira ◽  
Masatoshi Jinnin ◽  
Miho Harada ◽  
Shinichi Masuguchi ◽  
Satoshi Fukushima ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Driver Mutations ◽  
Kaposiform Hemangioendothelioma ◽  
Exome Sequence

scholarly journals Identification of functional genetic variation in exome sequence analysis

2011 ◽  
Vol 5 (S9) ◽  
Author(s):  
Andrew Jaffe ◽  
Genevieve Wojcik ◽  
Audrey Chu ◽  
Asieh Golozar ◽  
Ankit Maroo ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Sequence Analysis ◽  
Functional Genetic Variation ◽  
Exome Sequence

scholarly journals Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

2020 ◽  
Vol 6 (5) ◽  
pp. e514
Author(s):  
Yasuko Odake ◽  
Kishin Koh ◽  
Yoshihisa Takiyama ◽  
Hiroyuki Ishiura ◽  
Shoji Tsuji ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Sequence Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Psychiatric Symptoms ◽  
Spastic Paraparesis ◽  
Spastic Paraplegia ◽  
Caudate Nuclei ◽  
Extrapyramidal Signs ◽  
Complicated Form ◽  
Exome Sequence

ObjectiveTo establish molecular diagnosis for a family with a complicated form of autosomal recessive hereditary spastic paraplegia with intellectual disability, cognitive decline, psychosis, peripheral neuropathy, upward gaze palsy, and thin corpus callosum (TCC).MethodsPhysical examinations, laboratory tests, structural neuroimaging studies, and exome sequence analysis were carried out.ResultsThe 3 patients exhibited intellectual disability and progressive intellectual decline accompanied by psychiatric symptoms. Gait difficulty with spasticity and pyramidal weakness appeared at the ages of 20s–30s. Brain MRI revealed TCC with atrophic changes in the frontotemporal lobes, caudate nuclei, and cerebellum. Exome sequence analysis revealed a novel homozygous c.2654C>A (p. Ala885Asp) variant in the ATP13A2, a gene responsible for a complicated form of hereditary spastic paraplegia (SPG78), Kufor-Rakeb syndrome, and neuronal ceroid lipofuscinosis. The predominant clinical presentations of the patients include progressive intellectual disability and gait difficulty with spasticity and pyramidal weakness, consistent with the diagnosis of SPG78. Of note, prominent psychiatric symptoms and extrapyramidal signs including rigidity, dystonia, and involuntary movements preceded the spastic paraparesis.ConclusionsOur study further broadens the clinical spectrum associated with ATP13A2 mutations.

scholarly journals Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

2018 ◽  
Vol 26 (6) ◽  
pp. 912-918 ◽  
Author(s):  
Matthieu Egloff ◽  
Lam-Son Nguyen ◽  
Karine Siquier-Pernet ◽  
Valérie Cormier-Daire ◽  
Geneviève Baujat ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Copy Number ◽  
Copy Number Variants ◽  
Incomplete Penetrance ◽  
Recessive Mutations ◽  
Whole Exome ◽  
Exome Sequence

scholarly journals Whole exome sequence analysis of serous borderline tumors of the ovary

2013 ◽  
Vol 130 (3) ◽  
pp. 560-564 ◽  
Author(s):  
Jeff Boyd ◽  
Biao Luo ◽  
Suraj Peri ◽  
Beth Wirchansky ◽  
Lucinda Hughes ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Borderline Tumors ◽  
Whole Exome ◽  
Exome Sequence
Sign in / Sign up

Export Citation Format

Share Document