1.A case of congenital Pelger-Huet anomaly.
Soo Jung LEE ; Young Yoo KIM ; Seung Won KANG ; Jong Wan KIM ; Kyung Tai WHANG ; Sung Hoon CHO
Journal of the Korean Pediatric Society 1992;35(11):1578-1583
No abstract available.
Pelger-Huet Anomaly*
2.Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly.
Xiaocheng LUO ; Qin XU ; Ling HUANG ; Nannan YANG ; Yuanyuan LI ; Qiangwu ZENG ; Bangquan AN ; Shengwen HUANG
Chinese Journal of Medical Genetics 2019;36(9):905-909
OBJECTIVE:
To detect mutation of LBR gene in a pedigree affected with Pelger-Huёt anomaly (PHA) and to explore its clinical characteristics.
METHODS:
Genomic DNA was extracted from the pedigree and healthy controls. The 14 exons of the LBR gene were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified in other family members and 100 healthy controls. Polyphen-2 and SIFT software were used to predict the effect of the mutation, and Swiss-model software was used to simulate the protein structure.
RESULTS:
Three patients were found to carry a c.893G>A mutation in exon 8 of the LBR gene, which resulted in substitution of the 298th amino acid residue glycine by glutamic acid (p.Gly298Glu). The same mutation was not found in healthy family members and 100 healthy controls. The mutation was predicted to be damaging. Bioinformatic simulation showed the mutation has altered the 3D structure of the LBR protein.
CONCLUSION
The c.893G>A (p.Gly298Glu) mutation in the LBR gene probably underlies the PHA in this pedigree and has enriched the spectrum of LBR gene mutations.
Case-Control Studies
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DNA Mutational Analysis
;
Exons
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Humans
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Mutation
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Pedigree
;
Pelger-Huet Anomaly
;
genetics
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Polymerase Chain Reaction
;
Receptors, Cytoplasmic and Nuclear
;
genetics
3.Liver transplantation for the treatment of acute liver failure in 3 cases with NBAS gene deficiency and literature review.
Zhong Die LI ; Yu Chuan LI ; Cong Huan SHEN ; Jian She WANG ; Xin Bao XIE
Chinese Journal of Pediatrics 2023;61(1):66-69
Objective: To investigate the clinical efficacy of liver transplantation in the treatment of acute liver in children with NBAS gene deficiency disease and their outcome. Methods: This retrospective study enrolled children with NBAS gene deficiency who were admitted to the Children's Hospital of Fudan University for liver transplantation from January 2013 to June 2022. The clinical data were collected and analyzed. Medical literature published before June 2022 was searched with the keywords of "NBAS" "neuroblastoma amplified sequence recurrent" "acute liver failure" "SOPH syndrome" "short stature with optic nerve atrophy" "Pelger-Huët anomaly" in PubMed, China National Knowledge Infrastructure and Wanfang database. Results: Liver transplantation was performed in 3 patients (2 males and 1 female) with NBAS deficiency. All patients presented with fever-triggered recurrent acute liver failure. The genetic detection found compound heterozygous NBAS gene pathogenic variants in them. The total episodes of acute liver failure before liver transplantation were 11, 2, and 4 respectively, and the age at liver transplantation was 3.5, 2.3, and 2.0 years respectively. During liver transplantation, patient 1 was in the convalescent phase of acute liver failure, patient 2 was in the acute phase, presenting with hepatic encephalopathy (grade V) and respiratory failure, and patient 3 was considered to be in the acute phase. After liver transplantation, patient 1 recovered normal liver function within 1 month and had no liver transplantation-related complications. Patient 2 had secondary epilepsy, intellectual disability, movement disorder, and transiently elevated transaminases. Patient 3 died of severe infection within 1 month. There was no literature in Chinese, 6 in English, 8 NBAS-deficient patients who were treated with liver transplantation. Total 11 patients presented with fever-triggered recurrent acute liver failure. Their age at liver transplantation ranged from 0.9 to 5.0 years. Postoperative complications occurred in 3 patients. Until the last visit, they were followed up for 0.7 to 14.0 years. Total 2 patients died and the 9 surviving patients did not develop acute liver failure. Conclusions: Liver transplantation is effective for the treatment of acute liver failure associated with NBAS gene disease. However, postoperative complications of liver transplantation may occur. The timing of liver transplantation still needs further research.
Child
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Male
;
Humans
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Female
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Infant
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Child, Preschool
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Retrospective Studies
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Neoplasm Proteins/genetics*
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Optic Atrophy/genetics*
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Pelger-Huet Anomaly/genetics*
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Liver Failure, Acute/complications*