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Inferring compound heterozygosity from large-scale exome sequencing data
Recessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal...
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A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF...
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Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts
BackgroundTo investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4 -related genotypes and...
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Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management
BackgroundNiemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.
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Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a common reproductive aging disorder due to a dramatic decline of ovarian function before 40 years of age....
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Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency
BackgroundHomocystinuria due to methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. The purpose of this...
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Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
BackgroundAtaxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM ...
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Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Patients with MCPH present...
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SSR Marker Acquisition and Application from Transcriptome of Captive Chinese Forest Musk Deer (Moschus berezovskii)
Forest musk deer ( Moschus berezovskii) is one of the most endangered medicinally important wild animals in the world. Forest musk deer farming is the...
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Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China
BackgroundGene variants are responsible for more than half of hearing loss, particularly in nonsyndromic hearing loss (NSHL). The most common...
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Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia
Friedreich’s ataxia (FRDA) is usually due to a homozygous GAA expansion in intron 1 of the frataxin ( FXN ) gene. Rarely, uncommon molecular...
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Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19
The pre BCR complex plays a crucial role in B cell production, and its successful expression marks the B cell differentiation from the pro-B to...
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SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
C 19orf12 gene biallelic mutations lead mainly to neurodegeneration with brain iron accumulation-4. A 15-year-old male and his 17-year-old sister...
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Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing...
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Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to...
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The First Genome-Wide Survey of Shortbelly Eel (Dysomma anguillare Barnard, 1923) to Provide Genomic Characteristics, Microsatellite Markers and Complete Mitogenome Information
Dysomma anguillare is a demersal eel widespread distributing in tropical waters of the Indo-West Pacific and Atlantic. As an important component of...
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The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates
GJB2 was originally identified in severe, non-syndromic sensorineural hearing loss (SNHL), but was subsequently associated with mild and moderate...
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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Constitutional heterozygous mutations in CHEK2 gene have been associated with hereditary cancer risk. To date, only a few homozygous CHEK2 mutations...
