Clinical utility gene card for: Cystinosis

Levtchenko, Elena; Heuvel, Lambertus van den; Emma, Francesco; Antignac, Corinne

doi:10.1038/ejhg.2013.204

Cited by 31 publications

(27 citation statements)

References 22 publications

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“…The presence of slow myosin aggregates in muscles from cystinosis patients has never been reported before, perhaps because immunostains for slow myosin are not routinely performed in every laboratory. This unexpected finding prompted us to look for mutation in MYH7 with the idea that double trouble in this case may explain the phenotypical differences with his affected sister, especially considering that mutations in MYH7 also 13 cause a distal myopathy, although with different distribution of symptoms [14]. But no MYH7 mutations were identified.…”

Section: Discussionmentioning

confidence: 93%

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Cystinosis distal myopathy, novel clinical, pathological and genetic features

Cabrera‐Serrano

Junckerstorff

Alisheri

et al. 2017

Neuromuscular Disorders

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Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement. One of the patients was on treatment with Cysteamine for over 12 years but still developed the usual complications of nephropathic cystinosis in his twenties. Novel pathological findings consisting in sarcoplasmic deposits reactive for slow myosin were identified. Three previously known and one novel mutation are reported. Nephropathic cystinosis should be included in the differential diagnosis of distal myopathies in those with early renal failure. Novel clinical and pathological features are reported here contributing to the characterization of the muscle involvement in nephropathic cystinosis.

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Section: Discussionmentioning

confidence: 93%

“…In patient one, a determination of cysteine in white blood cells resulted unexpectedly in a normal result. Although this is a highly sensitive test, several circumstances can lead to false negative results [13]. In this case, the low viability of the sample received was probably the cause of the false negative result.…”

Section: Discussionmentioning

confidence: 99%

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Cabrera‐Serrano

Junckerstorff

Alisheri

et al. 2017

Neuromuscular Disorders

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“…The most common CTNS mutation in Northern Europe is the 57-kb deletion, which is in accordance with our results. In fact, the 57-kb deletion accounts for about 50% of cystinosis chromosomes in European populations [29] [30]. It is thought that this deletion has arisen because of a founder effect, originated in Germany around the middle of the first millennium A.D. [3] [7] [9].…”

Section: Resultsmentioning

confidence: 99%

<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population

Ferreira¹,

Leal²,

Sousa³

et al. 2018

OJGen

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Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22; 45.5%), and other five were compound heterozygous for this variant (15/22; 68.2%). The other mutations found were p.Q128X (c.721 C>T; of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

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“…Cystinosis, caused by bi-allelic mutations in the 17p13.2-located CTNS gene (Town et al, 1998), is an autosomal recessive disorder with an incidence of approximately one in 100,000 to 200,000 live births (Gahl, Thoene, & Schneider, 2009). Though over 100 mutations have been identified, the most common is a 57-kb deletion (Levtchenko, van den Heuvel, Emma, & Antignac, 2014;Shotelersuk et al, 1998). CTNS encodes cystinosin, a lysosomal cystine-proton co-transporter.…”

Section: Introductionmentioning

confidence: 99%

Electrophysiological evidence for impaired auditory sensory memory in Cystinosis despite typical sensory processing: An MMN investigation

et al. 2019

Preprint

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Cystinosis, a genetic rare disease characterized by cystine accumulation and crystallization, results in significant damage in a multitude of tissues and organs, such as the kidney, thyroid, eye, and brain. While Cystinosis' impact on brain function is relatively mild compared to its effects on other organs, the increased lifespan of this population and thus potential for productive societal contributions have led to increased interest on the effects on brain function. Nevertheless, and despite some evidence of structural brain differences, the neural impact of the mutation is still not well characterized.Here, using a passive duration oddball paradigm (with different stimulus onset asynchronies (SOAs), representing different levels of demand on memory) and high-density electrophysiology, we tested basic auditory processing in a group of 22 children and adolescents diagnosed with Cystinosis (age range: 6-17 years old) and in neurotypical age-matched controls (N=24). We examined whether the N1 and mismatch negativity (MMN) significantly differed between the groups and if those neural measures correlated with verbal and non-verbal IQ.Individuals diagnosed with Cystinosis presented similar N1 responses to their age-matched peers, indicating typical basic auditory processing in this population. However, whereas both groups showed similar MMN responses for the shortest (450ms) SOA, suggesting intact change detection and sensory memory, individuals diagnosed with Cystinosis presented clearly reduced responses for the longer (900ms and 1800ms) SOAs. This could indicate reduced duration auditory sensory memory traces, and thus sensory memory impairment, in children and adolescents diagnosed with Cystinosis. Future work addressing other aspects of sensory and working memory is needed to understand the underlying bases of the differences described here, and their implication for higher order processing.

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Clinical utility gene card for: Cystinosis

Cited by 31 publications

References 22 publications

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Cystinosis distal myopathy, novel clinical, pathological and genetic features

<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population

Electrophysiological evidence for impaired auditory sensory memory in Cystinosis despite typical sensory processing: An MMN investigation

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Clinical utility gene card for: Cystinosis

Cited by 31 publications

References 22 publications

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Cystinosis distal myopathy, novel clinical, pathological and genetic features

&lt;i&gt;CTNS&lt;/i&gt; Molecular Genetics Profile in a Portuguese Cystinosis Population

Electrophysiological evidence for impaired auditory sensory memory in Cystinosis despite typical sensory processing: An MMN investigation

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<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population