Compound heterozygous mutation
<p>A New Compound Heterozygous Mutation Of <em>BSCL2</em> In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy</p>
... new compound heterozygous mutation in the BSCL2 of the proband ...(c.545_546insCCG heterozygous mutation and exon 3 heterozygous ...c.545_546insCCG mutation was predicted ...
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A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report
... R820H mutation found within the DNA/RNA helicase domain, the R817H variant may similarly affect ATPase function through altering the SMARCAL1 structure or protein interaction ...
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Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
... Case presentation: This study reports a male infant diagnosed with lethal perinatal HPP. His gene analysis showed two heterozygous missense variants c.406C > T (p.R136C) and c.461C > T (p.A154V). The two ...
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Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene
... FHHNC is an autosomal recessive disorder of renal cal- cium and magnesium wasting often complicated by, as yet, unexplained progressive chronic renal failure during childhood or adolescence. Patients usually present with ...
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A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
... Background: Congenital adrenal hyperplasia (CAH) resulting from steroid 11 β -hydroxylase deficiency (11 β -OHD) is caused by mutations in the CYP11B1 gene. It is the second major form of CAH associated with hypertension ...
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Original Article A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy
... Respiratory difficulty is a consistent feature in juvenile onset Pompe disease, and often pre- cedes ambulatory failure in many patients [29]. Previous studies have suggested that a smaller proportion of patients with ...
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Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency
... novel compound heterozygous mutation in ASXL3 ...two compound heterozygous mutations synergistically impact on two points of the molecular interaction network of ...
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Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation
... a mutation in the glu- cose transporter 9 (GLUT9) gene (SLC2A9 [solute carrier family 2, mem- ber ...a compound heterozygous mutation in SLC2A9, a nonsense mutation in the pater- nal ...
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TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
... novel compound heterozygous mutation in the SLC19A2 gene of the patient was identified: a single nucleotide deletion ...the mutation could cause premature ter- mination during translation, ...
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Novel AARS2 Gene Mutation Producing Leukodystrophy: A Patient with Peripheral Demyelinating Polyneuropathy
... An adolescent male developed combined leukodystrophy and peripheral nerve demyelination in association with a novel compound heterozygous mutation in the AARS 2 gene. In 2013, a 16-year-old male with ...
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Search for compound heterozygous effects in exome sequence of unrelated subjects
... similar compound genotypes (Table 2) and similar sta- tistically significant findings, there were numerous inconsistencies, especially with regard to the rarest ...a compound heterozygote. In contrast, ...
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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
... 2010). Compound heterozygous mutations in NBAS have also been described in acute onset liver failure [10] (Haack et ...that compound heterozygous mutations in NBAS can account for a ...
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Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects
... a heterozygous variant carried by the affected brothers but not by their parents or unaffected sister); and for X-linked recessive inheritance (an X- chromosome variant present in the brothers, with ...
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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
... 2010). Compound heterozygous mutations in NBAS have also been described in acute onset liver failure [10] (Haack et ...that compound heterozygous mutations in NBAS can account for a ...
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Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing
... pound heterozygous mutations in the exon 6 of CNGA1 ...the heterozygous mu- tations co-segregate with ...the compound heterozygous mutations are the pathogenic mutations of ARRP in this ...
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Compound Heterozygous C282Y/H63D Mutation in Hemochromatosis: A Case Report
... thophysiology is better known, and hepcidin deficiency is the main mechanism leading to iron overload [5]. The liver synthesis of hepcidin is decreased and inappropriate to iron burden in case of HFE mutation. The ...
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A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
... a heterozygous missense mutation ...This mutation was predicted to inactivate the protein and might affect its interactions with other ...This mutation co-segregated with the disease ...
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Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states
... Several regions within the molecule of A1AT control the conformational changes which occur during the process of protease inhibition [4]. One of these, called the breach, is located at the top of β-sheet A where the ...
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FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans
... mouse lines revealed a critical 5–amino acid stretch in Foxn1 that was deleted as a result of the 1089 mutation in Pt. 1. This 5–ami- no acid segment is highly conserved with Foxn4, an ancestral gene present in ...
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Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men
... DNA extraction and genotype were performed as described [28]. The entire coding region of DAZL was sequenced, including all exons and flanking regions. Primers, primer concentrations, and PCR conditions were as indicated ...
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