Heterozygous mutation
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor
... novo heterozygous mutation may cause asymptomatic FHH but not NHPT ...novo heterozygous mutation, S591C, which has, however, been previously reported to be responsible for NHPT with multiple ...
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A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
... novo heterozygous mutation ...sense mutation, ...missense mutation causes an amino acid substitution of an asparagine residue with a serine residue ...This mutation site is absent from ...
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Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
... (p.A154V) was the novel mutation. Three-dimensional structure model was used to predict functional impair- ment of the mutant TNAP protein, which provided an explanation of the two mutated alleles correlating with ...
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Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta.
... Biochemically, her full blood count and renal and liver functions were normal, and her serum calcium, mag- nesium, phosphate, alkaline phosphatase and 25-hydro- xycholecalciferol levels were within their normal ranges. ...
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Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene
... T mutation has been shown to lead to an almost complete loss of function ...splice-site mutation results in loss of function of the pro- ...one mutation with residual function (partial loss of ...
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The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis
... a heterozygous mutation in a second Pol III subunit is insufficient to impair mouse neurological func- tion or Pol III transcript levels in Polr3a G672E/G672E mice at six months of ...
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TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
... 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, resulting in the ...
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Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation
... cause GLUT9L is thought to be the only major urate efflux transporter on the basolateral side, loss of function of GLUT9L would cause severe RHU. Therefore, when encountering pa- tients with severe hypouricemia on the ...
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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 normal ...
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"CLINICAL ASPECTS OF CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (ONDINE'S CURSE): A REVIEW" " by Raghvendra*, Satyanand Tyagi, Pramod Yadav, Sunanda Saxena, Rajesh A. Dodia, Tanvi D. Patel, India.
... Patients with congenital central hypoventilation syndrome who develop malignant neural crest–derived tumours have either a missense or a frame shift heterozygous mutation in the PHOX2B gene. Therefore, a ...
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Genetic Analysis of Leucin-Rich Repeat Kinase 2 LRRK2 G2019S Mutation in a Sample of Egyptian Patients with Parkinson's Disease, a Pilot Study
... G2019S mutation among Egyptians with PD has been published ...of heterozygous mutation in LRRK2 G2019S and the patients studied were of sporadic type of PD and inhabitants of the North part of Egypt ...
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Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation - the clinical significance of having the mutation
... concerning heterozygous mutation carriers and fHCM ...cats heterozygous for the mutation indicating that even though there may not be overt evi- dence of fHCM there is evidence of occult fHCM ...
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Genetic disorders in the growth hormone-IGF-I axis
... nonsense mutation with absolutely no production of ...missense mutation in the IGF-I gene resulting in an abnormal IGF-I protein that can only be partially detected by the ...of heterozygous ...
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Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man
... a heterozygous mutation in the HTRA1 gene, HTRA1 G283R, in which glycine was replaced by arginine at position 283 in the amino acid sequence of the HTRA1 protein (Gly283Arg) because of a missense ...
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When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
... Since the maternal and paternal alleles are not expressed as a result of the respective mutations they carry, the question arises as to what is occurring in the proband that has allowed her to survive and present with a ...
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Dominant negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID)
... These results are strikingly similar to the findings with EC Fas mutations cloned from patients with autosomal dominant auto- immune lymphoproliferative syndrome (ALPS). Those Fas muta- tions also failed to bind FasL and ...
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A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency
... mutation in HFM1 (c.3470G > A) was very close to an intersection of splice sites, we used bioinformatic splice prediction tools to assess the possible effect of the c.3470G > A mutation, which ...
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Heterozygous connexin 50 mutation affects metabolic syndrome attributes in spontaneously hypertensive rat
... taneous mutation L7Q in Gja8 gene (coding for connexin50) which arose in spontaneously hypertensive rat strain (SHR hereafter; Rat Genome Database (RGD) [8] ID: 631848) leads to microphthalmia and cataract ...
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A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
... gene mutation without RUNX2 gene mu- tations, 1 patient was diagnosed as Ritscher-Schinzel syndrome, 2 subjects’ weakness were secondary to cer- vical myelopathy, 8 cases were lacking of detailed de- scriptions of ...
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BRCA1 mutations attenuate super enhancer function and chromatin looping in haploinsufficient human breast epithelial cells
... BRCA1 mutation carriers (BRCA1 mut/+ ) and non-carriers (BRCA1 +/+ ...that heterozygous cancer- predisposing BRCA1 mutation (BRCA1 mut/+ ) dampens super-enhancer marks in primary human mammary epi- ...
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