Compound heterozygous
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations
... the compound heterozy- gous mutations in non consanguineous PH1 Tunisian families with a variable ...in compound heterozygous state in- cluding ...a heterozygous state and described for the ...
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FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans
... that enter the medullary regions. The expansion and function of medullary TECs (mTECs) relies on their crosstalk with SP thymo- cytes, with CD40L, RANKL, and EGF engaging CD40, RANK, and EGFR, respectively, on the TECs ...
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<p>Rare compound heterozygous missense <em>SPATA7</em> variations and risk of schizophrenia; whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a case-control study</p>
... To prioritize variations, we applied the following fi lter- ing steps (Table 2). First, we included variations on auto- somes. Second, we included variations covered by ≥ 10 reads. Third, we included “ HIGH ” or “ ...
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<p>A New Compound Heterozygous Mutation Of <em>BSCL2</em> In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy</p>
... Patients with homozygous or compound heterozygous loss of function mutations in BSCL2 showed the most severe CGL2 type. At present, nearly three-quarters of the reported mutations in BSCL2 of patients 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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Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation
... a compound heterozygous mutation in SLC2A9, a nonsense mutation in the pater- nal allele ...the heterozygous status of SLC2A9 did not cause severe hypouricemia, and they lend support to previous ...
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A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder
... In the second stage of the Autism Genome Project (AGP) genome-wide study, amounting to approximately 1,600 ASD families [13], we detected one rare compound heterozygous deletion involving the CTNNA3 gene, ...
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A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
... or compound heterozygous recessive mutations are associated with dif- fuse disease, and are typically managed medically or with near–total pancreatectomy, as ...
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Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects
... Mutations in RIPPLY2 have not been reported in human disease previously; and variants in this gene are uncommon. From our own internal data of 991 samples with unrelated disorders sequenced using similar technology, no ...
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Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review
... In summary, the present study reports the case of a Chinese patient with non-classical 11OHD and presenting with early-onset hypertension, and carrying compound heterozygous mutations in CYP11B1, of which ...
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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 ...this compound mutation as a “ pathogenicity ...
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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 ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency
... a compound heterozygous ASXL3 mutation in a patient with BRPS-like features and associated with pri- mary IGF1 ...The compound heterozygous mutations in our patient also lie on exon 11 and ...
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Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
... We describe a patient with diazoxide responsive CHI due to compound heterozygous ABCC8 mutation. The pro- band was macrosomic at birth (consistent with foetal hy- perinsulinism) and presented with severe ...
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Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report
... Background: Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. ...
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Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene
... Genotyping of the index case and the family members revealed 2 heterozygous mutations of CLDN16. The CLDN16 gene codes for a protein which is almost exclu- sively expressed in the TAL of the loop of Henle and ...
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Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
... In conclusion, this study reported a rare case of peri- natal HPP, which is caused by two heterozygous deleteri- ous mutations (c.406C > T (p.R136C) and c.461C > T (p.A154V)) in the TNAP gene. Among them ...
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Search for compound heterozygous effects in exome sequence of unrelated subjects
... of compound heterozygosity, we propose a simple approach for incorporating genotype phase in a rare variant collapsing procedure for the analysis of DNA sequence ...
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Compound Heterozygous C282Y/H63D Mutation in Hemochromatosis: A Case Report
... Hereditary hemochromatosis is a condition characterized by iron overload, which is both treatable and preventable. It’s mainly related to hepcidin deficiency related to mutations in genes involved in hepcidin regulation. ...
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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
... A 57-year-old woman of Moroccan origin suffering from an end-stage kidney disease was admitted for pre-kidney transplant investigations. Her medical story revealed diabetes with various peripheral vascular complications ...
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