Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family

2020 ◽  
Vol 42 (8) ◽  
pp. 587-593
Author(s):  
Jamil A. Hashmi ◽  
Fatima Fadhli ◽  
Ahmed Almatrafi ◽  
Sibtain Afzal ◽  
Khushnooda Ramzan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygosity Mapping ◽  
Cohen Syndrome ◽  
Whole Exome ◽  
Saudi Family ◽  
Exact Diagnosis

scholarly journals Exome sequencing identified a novelde novo OPA1mutation in a consanguineous family presenting with optic atrophy

2016 ◽  
Vol 98 ◽  
Author(s):  
LIOR COHEN ◽  
SHAY TZUR ◽  
NITZA GOLDENBERG-COHEN ◽  
CONCETTA BORMANS ◽  
DORON M. BEHAR ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Optic Neuropathy ◽  
Optic Atrophy ◽  
De Novo ◽  
Extended Family ◽  
Homozygosity Mapping ◽  
Visual Field Defects ◽  
Whole Exome ◽  
Hereditary Optic Neuropathy

SummaryInherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multiple modes of inheritance have been reported, autosomal dominant optic atrophy and mitochondrial inherited Leber's hereditary optic neuropathy are the most common forms. Optic atrophy type 1, caused by mutations in theOPA1gene is believed to be the most common hereditary optic neuropathy, and most patients inherit a mutation from an affected parent. In this study we used whole-exome sequencing to investigate the genetic aetiology in a patient affected with isolated optic atrophy. Since the proband was the only affected individual in his extended family, and was a product of consanguineous marriage, homozygosity mapping followed by whole-exome sequencing were pursued. Exome results identified a novelde novo OPA1mutation in the proband. We conclude, that thoughde novo OPA1mutations are uncommon, testing of common optic atrophy-associated genes such as mitochondrial mutations andOPA1gene sequencing should be performed first in single individuals presenting with optic neuropathy, even when dominant inheritance is not apparent.

scholarly journals Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

PLoS ONE ◽  
2014 ◽  
Vol 9 (11) ◽  
pp. e112747 ◽  
Author(s):  
Alireza Haghighi ◽  
Amit Tiwari ◽  
Niloofar Piri ◽  
Gudrun Nürnberg ◽  
Nasrollah Saleh-Gohari ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygosity Mapping ◽  
Knobloch Syndrome ◽  
Whole Exome

scholarly journals Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

2011 ◽  
Vol 89 (6) ◽  
pp. 773-781 ◽  
Author(s):  
Agnès Bloch-Zupan ◽  
Xavier Jamet ◽  
Christelle Etard ◽  
Virginie Laugel ◽  
Jean Muller ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygosity Mapping ◽  
Developmental Defects ◽  
Whole Exome

scholarly journals Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

2021 ◽  
Vol Volume 14 ◽  
pp. 1583-1589
Author(s):  
Xiaoyun Hu ◽  
Tao Huang ◽  
Yun Liu ◽  
Lina Zhang ◽  
Li Zhu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chinese Patient ◽  
Cohen Syndrome ◽  
Whole Exome

Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2

2014 ◽  
Vol 86 (6) ◽  
pp. 598-600 ◽  
Author(s):  
M. He ◽  
B.-S. Tang ◽  
N. Li ◽  
X. Mao ◽  
J. Li ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutation ◽  
Homozygosity Mapping ◽  
Whole Exome

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

2016 ◽  
Vol 67 ◽  
pp. 28-33 ◽  
Author(s):  
Musharraf Jelani ◽  
Changsoo Kang ◽  
Hussein Sheikh Ali Mohamoud ◽  
Rayan Al-Rehaili ◽  
Mona Mohammad Almramhi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Tooth Eruption ◽  
Clinical Spectrum ◽  
Whole Exome ◽  
Saudi Family
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