Identification of an NPHP1 deletion causing adult form of nephronophthisis

Haghighi, Alireza; Savaj, Shokoufeh; Haghighi-Kakhki, Hamidreza; Benoît, Valérie; Grisart, Bernard; Dahan, Karin

doi:10.1007/s11845-015-1312-7

Cited by 16 publications

(20 citation statements)

References 29 publications

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“…The genetic analyses in our adult‐onset patient revealed a homozygous full gene deletion of NPHP1 , which is typically associated with juvenile nephronophthisis . Albeit rare, other similar patients of NPHP‐induced delayed/adult‐onset ESRD have previously been observed . More recently, 26 (0.5%) patients harboring a homozygous NPHP1 full gene deletion were identified among 5606 patients that underwent kidney transplantation .…”

Section: Discussionmentioning

confidence: 59%

“…3,4,8,9 Albeit rare, other similar patients of NPHP-induced delayed/adult-onset ESRD have previously been observed. [10][11][12][13] More recently, 26 (0.5%) patients harboring a homozygous NPHP1 full gene deletion were identified among 5606 patients that underwent kidney transplantation. 5 The average age at which these patients developed ESRD was 30 years (range, 18-61 years), and 54% of the patients were aged greater than 30 years at ESRD onset.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion

Watanabe

Ino

Fujimaru

et al. 2019

Clinical Case Reports

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Key Clinical Message We report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed.

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 99%

PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion

Watanabe

Ino

Fujimaru

et al. 2019

Clinical Case Reports

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“…Moreover, HCL-V carried recurrent chromosomal abnormalities such as micro-deletion of chromosomes 2q13 and large chromosomal loss of 14q. NPHP1, locating at 2q13, complete deletion of this gene might cause nephronophthisis [32]. The contribution to tumorigenesis of this gene is not known.…”

Section: Discussionmentioning

confidence: 99%

Difference of genomic copy numbers alterations between hairy cell leukemia-variant and classical hairy cell leukemia: a pilot retrospective study in Chinese

Zhang

Wang

et al. 2020

Int. J. Med. Sci.

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Background: Hairy cell leukemia (HCL) is a rare chronic B-cell lymphoproliferative disorder. It has two pathological subtypes: classical HCL (HCL-C) and HCL-variant (HCL-V). HCL-C and HCL-V are distinct in morphology and immunophenotype. Their differentiation is important for patient management and clinical outcome, with HCL-V responding poorly to conventional HCL treatments. Recently, whole genomic sequencing has been used to identify the difference between HCL-C and HCL-V and mutation of BRAF V600E has been proved to be a molecular hallmark of HCL-C. However, BRAF inhibitors were not effective in all HCL-C cases and HCL-V seems be lack of the high-frequency mutations. Therefore, it is necessary to compare the genomic changes between HCL-C and HCL-V by high-resolution studies, especially in Chinese population, the genomic alterations of HCL have rarely be reported. Methods: In this study, the clinical features of a total of 18 Chinese HCL patients were described. Single nucleotide polymorphism (SNP) array analysis was performed to evaluate the genomic copy number alterations (CNA) and copy neutral loss of heterozygosity (CN-LOH) on six HCL-Vs with CD25 -/BRAF V600Eand four HCL-Cs with CD25 + /BRAF V600E+ . Results: A total of 24 CNAs including seven chromosomal gains and 17 chromosomal losses, and 22 CN-LOHs were revealed. Five of the six cases of HCL-V showed 15 CNAs including four cryptic chromosomal gains and 11 chromosomal losses. Overlapping regions involving micro-deletion of chromosome 2q13 and large chromosomal loss of 14q were showed in HCL-V. In HCL-C, a total of nine CNAs were revealed in three of the four cases including three chromosomal gains and six chromosomal losses. No overlapping area was observed among the CNVs. 15 CN-LOHs were showed in five of the six cases of HCL-V and seven CN-LOHs was demonstrated in all of the four HCL-Cs. Conclusions: Comparing to Westerners, a relatively higher proportion of HCL-V in all HCL is observed in this study. CNAs and CN-LOHs were common in both HCL-V and HCL-C but the CNAs were different in them. HCL-C was characterized with the higher ratio of large chromosomal changes but lacked of recurrent CNAs, while HCL-V was presented with the higher incidence of cryptic CNAs and recurrent CNAs involving tumor-associated genes. It is necessary to further investigate the association of the genes, such as NPHP1 and TRAF3 genes, and HCL-V in the future study.

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“…However, as stated before in the description of the case, the CGH was initially ordered due to the neurological disability, without the knowledge of the chronic kidney disease, and later, when the patient was evaluated by our nephrology department and the diagnosis was clinically suspected, we decided to wait for the pending results, which confirmed our hypothesis. Further, an earlier paper by Haghighi 26 reports a family in which the diagnosis of NPH was made using CGH.…”

Section: Discussionmentioning

confidence: 99%