A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype

2019 ◽  
Vol 45 (4) ◽  
pp. 505-507
Author(s):  
F. Chen ◽  
J. Wang ◽  
Z. Yao ◽  
M. Li
Keyword(s):  
Start Codon ◽  
Codon Mutation

Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses

2013 ◽  
Vol 23 (6) ◽  
pp. 262-266 ◽  
Author(s):  
Rafael J. Camacho-Garcia ◽  
Amaia Hervás ◽  
Claudio Toma ◽  
Noemí Balmaña ◽  
Bru Cormand ◽  
...  
Keyword(s):  
Rare Variants ◽  
Start Codon ◽  
Protein Levels ◽  
Codon Mutation

scholarly journals Efficient Gene Silencing by Adenine Base Editor-Mediated Start Codon Mutation

2020 ◽  
Vol 28 (2) ◽  
pp. 431-440 ◽  
Author(s):  
Xinjie Wang ◽  
Zhiwei Liu ◽  
GuangLei Li ◽  
Lu Dang ◽  
Shisheng Huang ◽  
...  
Keyword(s):  
Gene Silencing ◽  
Start Codon ◽  
Efficient Gene ◽  
Codon Mutation ◽  
Adenine Base

Reduced expression of antigenic proteins MPB70 and MPB83 in Mycobacterium bovis BCG strains due to a start codon mutation in sigK

2005 ◽  
Vol 56 (5) ◽  
pp. 1302-1313 ◽  
Author(s):  
Danielle Charlet ◽  
Serge Mostowy ◽  
David Alexander ◽  
Louis Sit ◽  
Harald G. Wiker ◽  
...  
Keyword(s):  
Mycobacterium Bovis ◽  
Start Codon ◽  
Mycobacterium Bovis Bcg ◽  
Antigenic Proteins ◽  
Codon Mutation

scholarly journals A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Jae-Hwan Choi ◽  
Jin-Hong Shin ◽  
Je Hyun Seo ◽  
Jae-Ho Jung ◽  
Kwang-Dong Choi
Keyword(s):  
Start Codon ◽  
Infantile Nystagmus ◽  
Korean Families ◽  
Codon Mutation

scholarly journals Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

2016 ◽  
Vol 263 (10) ◽  
pp. 2133-2135 ◽  
Author(s):  
Giorgio Tasca ◽  
Fabiana Fattori ◽  
Mauro Monforte ◽  
Carola Hedberg-Oldfors ◽  
Mario Sabatelli ◽  
...  
Keyword(s):  
Late Onset ◽  
Start Codon ◽  
Polyglucosan Body ◽  
Codon Mutation ◽  
Nemaline Rods

scholarly journals SAT-350 A Tale of Two Mutations: Familial Hypocalciuric Hypercalcemia Caused by a Novel CaSR Start Codon Mutation Found in the Setting of a CaSR Hypercalciuric Variant

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Sindhura Bandaru ◽  
Elaine Michelle Pelley
Keyword(s):  
Start Codon ◽  
Calcium Excretion ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Clearance Ratio ◽  
Casr Gene ◽  
Increased Risk ◽  
Vitamin D Levels ◽  
Activating Mutation ◽  
Low Prevalence ◽  
Codon Mutation

Abstract Background: The calcium-sensing receptor (CaSR) mediates PTH production and renal calcium excretion by sensing circulating calcium levels. Activating mutations in the CaSR can cause a spectrum of phenotypes from overt hypoparathyroidism to isolated hypercalciuria. Inactivating mutations of the CaSR lead to the syndrome of familial hypocalciuric hypercalcemia (FHH) where the protein produced is less sensitive to calcium. A mutation in the start codon of the CaSR leading to FHH has not previously been reported. Case: 60-year-old female was seen for evaluation of osteoporosis with lowest T- score of -2.9 at spine. She had no family history of calcium disorders. Biochemical evaluation for secondary etiologies of bone loss showed persistent PTH-dependent hypercalcemia (with albumin-corrected serum calcium of 10.4-10.8 mg/dl, and PTH 64-78 pg/ml), initially raising suspicion for primary hyperparathyroidism. Subsequent testing showed a low 24-hour urine calcium (82 mg/day) despite adequate daily calcium intake, robust 25-hydroxy vitamin D levels (47 ng/ml), and normal renal function. Calcium/creatinine clearance ratio was low at 0.0064 and FHH was suspected. CaSR gene sequencing revealed two heterozygous abnormalities: (1) a likely pathogenic mutation in the start codon of the CaSR (c.3G>A (p.M1?)) that has not been previously reported (p.M1? indicates that it is not known whether the mutation leads to no CaSR being produced from that allele or if an abnormal protein is produced using an alternate methionine start codon) and (2) a low-prevalence activation mutation variant of the CaSR (p.R990G), which is associated with hypercalciuria and increased risk of kidney stones but generally does not cause hypocalcemia. Genetic testing was unable to determine if these two mutations were on the same (cis) or opposite (trans) alleles. If they are on opposite alleles, the phenotype represents the heterozygous loss-of-function CaSR abnormality with compensation by an activating mutation in the opposite allele. If they are on the same allele, the activating variant is either not expressed at all due to nontranslation or is located on an abnormal/shortened protein. CaSR sequencing of the patient’s daughter was normal. In the absence of recombination occurring between the two loci, this strongly suggests the two were on the same allele in this case. Discussion: Thus far, > 100 mutations in the CaSR gene causing FHH have been described; but to our knowledge, this case is the first report of a start codon mutation causing FHH. This happened to be identified in the setting of a low-prevalence hypercalciuric variant. Familial testing strongly suggested the two mutations were on the same allele. The activating mutation, therefore, was likely functionally silenced in this case.

scholarly journals The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

JIMD Reports ◽  
2020 ◽  
Vol 52 (1) ◽  
pp. 23-27 ◽  
Author(s):  
Willemijn F. E. Kuper ◽  
Claudia Alfen ◽  
Linda Eck ◽  
Stella A. Man ◽  
Marjolein H. Willemsen ◽  
...  
Keyword(s):  
Start Codon ◽  
Disease Course ◽  
Codon Mutation

Pre-S2 Start Codon Mutation of Hepatitis B Virus Subgenotype B3 Effects on NF-κB Expression and Activation in Huh7 Cell Lines

2018 ◽  
Vol 31 (5) ◽  
pp. 362-370
Author(s):  
Marlinang Diarta Siburian ◽  
Ivet Marita Suriapranata ◽  
Septelia Inawati Wanandi
Keyword(s):  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Cell Lines ◽  
Huh7 Cell ◽  
Start Codon ◽  
B Virus ◽  
Codon Mutation
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