Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis

2021 ◽  
pp. 1-5
Author(s):  
Zhihang Cheng ◽  
Richard Hagan ◽  
Damien C. M. Yeo
Keyword(s):  
Compound Heterozygous ◽  
Heterozygous State ◽  
Compound Heterozygous State

scholarly journals Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1437
Author(s):  
Adriana Vargas ◽  
Jorge Rojas ◽  
Ivan Aivasovsky ◽  
Sergio Vergara ◽  
Marianna Castellanos ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Mitochondrial Respiratory Chain ◽  
Trna Synthetase ◽  
Transfer Rna ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Aminoacyl Trna Synthetase ◽  
First Case ◽  
Compound Heterozygous State

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins lysine with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. KARS gene mutations have been linked to diverse neurologic phenotypes, such as neurosensorial hearing loss, leukodystrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, the impairment of the mitochondrial respiratory chain, and hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene and, in addition to the case report, the paper reviews the literature for other cases of KARS1-associated leukodystrophy.

Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America

2020 ◽  
Author(s):  
Adriana Vargas-Niño ◽  
Jorge Rojas-Martinez ◽  
Ivan Aivasovsky-Trotta ◽  
Sergio Vergara-Cardenas ◽  
Marianna Castellanos-Fernandez ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Mitochondrial Respiratory Chain ◽  
Trna Synthetase ◽  
Transfer Rna ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Aminoacyl Trna Synthetase ◽  
First Case ◽  
Compound Heterozygous State

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS) which activates and joins the lysin with its corresponding transfer RNA (tRNA), through the ATP-dependent aminoacylation of the amino acid. The KARS gene mutations have been linked to diverse neurologic phenotypes such as: neurosensorial hearing loss, leukodistrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, impairment of the mitochondrial respiratory chain, hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene.

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: Molecular dynamics and biochemical studies

2014 ◽  
Vol 52 (1) ◽  
pp. 27-34 ◽  
Author(s):  
Christine Cézard ◽  
Amrathlal Rabbind Singh ◽  
Gérald Le Gac ◽  
Isabelle Gourlaouen ◽  
Claude Ferec ◽  
...  
Keyword(s):  
Molecular Dynamics ◽  
Phenotypic Expression ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Biochemical Studies ◽  
Compound Heterozygous State

Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene

2009 ◽  
Vol 29 (02) ◽  
pp. 184-186 ◽  
Author(s):  
J. Oldenburg ◽  
A. Pavlova ◽  
A. Superti-Furga ◽  
B. Zieger ◽  
I. Hainmann
Keyword(s):  
Missense Mutation ◽  
Young Girl ◽  
Therapeutic Options ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Factor X ◽  
Factor X Deficiency ◽  
Relationship Of ◽  
Compound Heterozygous State

SummaryThe genotype-phenotype relationship of compound heterozygous factor X deficiency in a young girl with severe factor X deficiency and bleeding symptoms is characterized. We identified a novel deletion of exon 6 and a missense mutation (c.856G>A, Val286Met) in exon 7 of the F10 gene leading to a compound heterozygous state and causing severe factor X deficiency. Therapeutic options for patients with symptomatic factor X deficiency are demonstrated.

scholarly journals Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nobuhiro Hashimoto ◽  
Sumito Dateki ◽  
Eri Suzuki ◽  
Takatoshi Tsuchihashi ◽  
Aiko Isobe ◽  
...  
Keyword(s):  
Plant Sterol ◽  
Autosomal Recessive ◽  
Elevated Serum ◽  
Asian Population ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Single Nucleotide ◽  
Compound Heterozygous Variants ◽  
Compound Heterozygous State

AbstractSitosterolemia is an autosomal recessive disorder that affects lipid metabolism and is characterized by elevated serum plant sterol levels, xanthomas, and accelerated atherosclerosis. In this study, we report a novel nonsense single-nucleotide variant, c.225G > A (p.Trp75*), and an East Asian population-specific missense multiple-nucleotide variant, c.1256_1257delTCinsAA (p.Ile419Lys), in the ABCG8 gene in a compound heterozygous state observed in a Japanese girl with sitosterolemia.

scholarly journals Compound heterozygosity for hemoglobin D and hemoglobin E

2016 ◽  
Vol 9 (4) ◽  
pp. 214
Author(s):  
Mohammad Mizanur Rahman ◽  
Lutfunnahar Khan ◽  
Masuda Begum ◽  
Debashish Saha ◽  
Arif Ahmed Khan
Keyword(s):  
Southeast Asia ◽  
Hypochromic Anemia ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Compound Heterozygosity ◽  
Hemoglobin E ◽  
Heterozygous Condition ◽  
Family Screening ◽  
Compound Heterozygous State

<p>We present two cases of compound heterozygous state for hemoglobin (Hb) D and HbE who reported to the hospital for fever and incidentally found moderate microcytic hypochromic anemia. Later on they were investigated by capillary hemoglobin electrophoresis. Capillary Hb electrophoresis revealed compound heterozygous state for hemoglobin D and hemoglobin E. On family screening, father of one patient turned out to be HbD trait and mother as HbE trait. Due to unavailability of parents and siblings of other patient, family screening was not possible. Compound or double heterozygous state for HbD and HbE is rare. There are only six published reported cases of such double heterozygous state for HbD and HbE in Southeast Asia. Marriage between third degree relatives, which are more common among Muslims as well as inter caste marriages, common in some states of India have resulted into this compound heterozygous condition. Such double heterozygous case is clinically silent as compared to HbE/beta thalassemia or HbD/beta thalassemia.</p>

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