Pellagra‐like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

Hijazi, Hadia; Salih, M. A. M.; Hamad, Muddathir H.; Hassan, Hamdy H.; Salih, S.B.M.; Mohamed, Khalid; Mukhtar, Maowia M.; Karrar, Zein A.; Ansari, Shinu; Ibrahim, Niema; Alkuraya, Fowzan S.

doi:10.1111/cge.12325

Cited by 14 publications

(11 citation statements)

References 21 publications

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“…This finding also suggests that viability may be predicated on the presence and partial functionality of XPG. Two other studies also found that the most severe cases of XP-CS in their cohort resulted from severely truncated XPG proteins that were suspected to be nonfunctional [24, 63], compared with a milder case in a compound heterozygous patient with one partially functional copy of the XPG gene. Again, these findings suggest that partial functionality in at least one allele may result in a milder phenotype.…”

Section: Discussionmentioning

confidence: 97%

Xeroderma pigmentosum-Cockayne syndrome complex

Natale¹,

Hayley²

2017

Orphanet J Rare Dis

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Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.Although health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0616-2) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 97%

Xeroderma pigmentosum-Cockayne syndrome complex

Natale¹,

Hayley²

2017

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…This finding also suggests that viability may be predicated on the presence and partial functionality of XPG. Two other studies also found that the most severe cases of XP-CS in their cohort resulted from severely truncated XPG proteins that were suspected to be nonfunctional [24,63], compared with a milder case in a compound heterozygous patient with one partially functional copy of the XPG gene. Again, these findings suggest that partial functionality in at least one allele may result in a milder phenotype.…”

Section: Genes and Phenotypementioning

confidence: 93%

Xeroderma pigmentosum-Cockayne syndrome complex

2020

Definitions

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Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS. Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS. Although health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.

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“… c.[?] 9 mo 6.5 y Y N Y Y Y Y Y Y [ 157 , 158 ] XP72MA p.[Glu727*] c.[2179G>T] p.[Trp814Ser] c.[2441G>C] 7 y ND Y N ND Y ND ND Y Y [ 155 ] Patient case 16 p.[Glu734_Thr1186 delins2*] c.[2200-10C>G] 4.3 y ND Y N Y Y N Y Y Y [ 163 ] Patient case 1 p.[Asp798Tyr] c.[2392G>T] 3 y 6.5 y Y N Y Y ND Y Y ND [ 164 ] Patient case 2 c p.[Asp798Tyr] c.[2392G>T] …”

Section: Xpg and Human Diseasementioning

confidence: 99%

XPG: a multitasking genome caretaker

Muniesa-Vargas

Theil

Ribeiro-Silva

et al. 2022

Cell. Mol. Life Sci.

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The XPG/ERCC5 endonuclease was originally identified as the causative gene for Xeroderma Pigmentosum complementation group G. Ever since its discovery, in depth biochemical, structural and cell biological studies have provided detailed mechanistic insight into its function in excising DNA damage in nucleotide excision repair, together with the ERCC1–XPF endonuclease. In recent years, it has become evident that XPG has additional important roles in genome maintenance that are independent of its function in NER, as XPG has been implicated in protecting replication forks by promoting homologous recombination as well as in resolving R-loops. Here, we provide an overview of the multitasking of XPG in genome maintenance, by describing in detail how its activity in NER is regulated and the evidence that points to important functions outside of NER. Furthermore, we present the various disease phenotypes associated with inherited XPG deficiency and discuss current ideas on how XPG deficiency leads to these different types of disease.

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Pellagra‐like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

Cited by 14 publications

References 21 publications

Xeroderma pigmentosum-Cockayne syndrome complex

Xeroderma pigmentosum-Cockayne syndrome complex

Xeroderma pigmentosum-Cockayne syndrome complex

XPG: a multitasking genome caretaker

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