Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Volpi, L.; Roversi, Gaia; Colombo, E.; Leijsten, Nico; Concolino, Daniela; Calabria, Andrea; Mencarelli, Maria Antonietta; Fimiani, Michele; Macciardi, Fabìo; Pfundt, Rolph; Schoenmakers, Eric; Larizza, Lidia

doi:10.1016/j.ajhg.2009.11.014

Cited by 135 publications

(118 citation statements)

References 11 publications

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“…Poikiloderma with Neutropenia is another rare Mendelian syndrome, which has overlapping clinical features with DC, including abnormal skin pigmentation, nail dystrophy, neutropenia, and pulmonary disease [99]. C16orf57 encodes a protein of unknown function.…”

Section: With Normal Telomere Length?mentioning

confidence: 99%

Dyskeratosis congenita as a disorder of telomere maintenance

Nelson

Bertuch

2012

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

122

116

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Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and features of premature aging. DC is now characterized molecularly by the presence of short age-adjusted telomeres. Mutations in seven genes have been unequivocally associated with DC, each with a role in telomere length maintenance. These observations, combined with knowledge that progressive telomere shortening can impose a proliferative barrier on dividing cells and contribute to chromosome instability, have led to the understanding that extreme telomere shortening drives the clinical features of DC. However, some of the genes implicated in DC encode proteins that are also components of H/ACA-ribonucleoprotein enzymes, which are responsible for the posttranslational modification of ribosomal and spliceosomal RNAs, raising the question whether alterations in these activities play a role in the pathogenesis of DC. In addition, recent reports suggest that some cases of DC may not be characterized by short age-adjusted telomeres. This review will highlight our current knowledge of the telomere length defects in DC and the factors involved in its development.

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Section: With Normal Telomere Length?mentioning

confidence: 99%

Dyskeratosis congenita as a disorder of telomere maintenance

Nelson

Bertuch

2012

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

122

116

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“…In 2010, an Italian family with Clericuzio-type poikiloderma with neutropenia was found to have a mutation in C16orf57 [67]. At that time, the gene’s function was unknown.…”

Section: Poikiloderma With Neutropeniamentioning

confidence: 99%

Neutropenia in primary immunodeficiency

Sokolic

2013

Current Opinion in Hematology

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Purpose of review Neutropenia is a feature of several primary immunodeficiency diseases (PIDDs). Because of the diverse pathophysiologies of the PIDDs and the rarity of each disorder, data are often lacking, leading to the necessity of empiric treatment. Recent developments in the understanding of neutropenia in several of the PIDDs make a review of the data timely. Recent findings The category of severe congenital neutropenia continues to expand. Mutations in G6PC3 have been identified as the cause of neutropenia in a minority of previously molecularly undefined cases. Recent advances have broadened our understanding of the pathophysiology and the clinical expression of this disorder. A possible function of the C16orf57 gene has been hypothesized that may explain the clinical overlap between Clerucuzio-type poikiloderma with neutropenia and other marrow diseases. Plerixafor has been shown to be a potentially useful treatment in the warts, hypogammaglobulinemia, infection, and myelokathexis syndrome. Investigations of patients with adenosine deaminase deficient severe combined immunodeficiency have identified neutropenia, and particularly susceptibility to myelotoxins, as a feature of this disorder. Granulocyte-colony stimulating factor is the treatment of choice for neutropenia in PIDD, whereas hematopoietic cell transplantation is the only curative option. Summary The number of PIDDs associated with neutropenia has increased, as has our understanding of the range of phenotypes. Additional data and hypotheses have been generated helping to explain the diversity of presentations of neutropenia in PIDDs.

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“…The differential diagnosis of RTS are other poikilodermatous conditions such as Clericuzio-type poikiloderma with neutropenia,9 Werner syndrome, Kindler syndrome, dyskeratosis congenita and Bloom syndrome 10 11. Clericuzio-type poikiloderma with neutropenia (PN (MIM %604173)) is a rare autosomal-recessive genodermatosis characterised by poikiloderma, pachyonychia and chronic neutropenia, and considered to be a rare cancer predisposing genodermatosis; partial clinical overlap has caused misdiagnosis of this condition with RTS until identification of the causative gene 9.…”

Section: Differential Diagnosismentioning

confidence: 99%

“…Clericuzio-type poikiloderma with neutropenia (PN (MIM %604173)) is a rare autosomal-recessive genodermatosis characterised by poikiloderma, pachyonychia and chronic neutropenia, and considered to be a rare cancer predisposing genodermatosis; partial clinical overlap has caused misdiagnosis of this condition with RTS until identification of the causative gene 9. In Werner syndrome, the poikilodermatous changes start, approximately, at the time of puberty, with early greying and loss of hair 10.…”

Section: Differential Diagnosismentioning

confidence: 99%

Dental management of Rothmund-Thomson syndrome with partial anodontia

Rathi¹,

Bhattad²,

Thosar³

et al. 2015

BMJ Case Reports

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Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive trait disease. It is characterised by skin, eye and skeletal abnormalities. Abnormalities associated with teeth include abnormal crown and root formations, rudimentary or hypoplastic teeth, microdontia and multiple missing teeth. In the present case, there were multiple decayed primary teeth and multiple congenitally missing permanent teeth. Mandibular left primary first molar (tooth 74) was pulpally involved and obturated with mineral trioxide ggregate. Follow-up after 2 years revealed successful obturation.

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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Cited by 135 publications

References 11 publications

Dyskeratosis congenita as a disorder of telomere maintenance

Dyskeratosis congenita as a disorder of telomere maintenance

Neutropenia in primary immunodeficiency

Dental management of Rothmund-Thomson syndrome with partial anodontia

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