A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family

Ren, Yingxue; Xu, Ling; Liu, Yunfeng; Xiang, Chen-Yu; Gao, Fei; Wang, Yan; Bai, Tao; Yin, Jibin; Zhao, Yanglu; Yang, Jing

doi:10.1097/md.0000000000012295

Cited by 5 publications

(5 citation statements)

References 22 publications

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“…For a long time, China' s healthcare system has paid less attention to rare diseases, including AIP (106,107). An early study in the Mainland found a high rate of AIP misdiagnosis (33). Over a decade ago, a study involving 24 unrelated Chinese patients with AIP in Taiwan found no genotype/phenotype correlations, but the spectrum of HMBS gene mutations detected in these patients with AIP coincided with those observed in patients of other ethnic origins (61).…”

Section: Status Of Research On Aip In Chinamentioning

confidence: 99%

Recent advances in the epidemiology and genetics of acute intermittent porphyria

Tian

Peng

et al. 2020

IRDR

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Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. Variations in the prevalence and penetrance of AIP in various studies may due to the different inclusion criteria and methods of assessment. Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. In addition, quite a few studies have indicated that AIP susceptibility was affected by other factors, such as modifying genes. Findings regarding possible modifying genes are documented here, helping to reveal the pathogenesis of and treatments for AIP. The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.

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Section: Status Of Research On Aip In Chinamentioning

confidence: 99%

Recent advances in the epidemiology and genetics of acute intermittent porphyria

Tian

Peng

et al. 2020

IRDR

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“…Seizures have been reported in patients with AIP suffering an acute attack (17)(18)(19)(20)(21)(22). Types of seizures include myoclonic jerks, tonic-clonic seizures, partial seizures followed by secondarily generalized seizures, and generalized seizures (23)(24)(25)(26).…”

Section: Epileptic Seizuresmentioning

confidence: 99%

Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations

Teng

Zhang

et al. 2020

IRDR

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acute intermittent porphyria, mechanisms, aminolevulinic acid (ALA), attack Porphyrias are a group of inherited metabolic diseases that include eight types, each of which is caused by a mutation that affects an enzyme of the heme biosynthetic pathway. When an enzyme defect has physiological significance, it leads to overproduction of pathway precursors prior to the defective step. The partial absence of the third enzyme in the heme biosynthetic pathway, porphobilinogen deaminase (PBGD) also known as hydroxymethylbilane synthase (HMBS), results in acute intermittent porphyria (AIP), which affects mainly women. Subjects who had AIP symptoms were deemed to have manifest AIP (MAIP). Clinical manifestations are usually diverse and non-specific. Acute AIP episodes may present with abdominal pain, nausea, and vomiting, and repeated episodes may result in a series of chronic injuries. Therefore, studying the mechanisms of acute and chronic manifestations of AIP is of great significance. This review aims to summarize the possible mechanisms of acute and chronic manifestations in patients with AIP.

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“…This fluctuation of annual incidence may be related to the following factors. The misdiagnosis rate of AIP in China is very high in early years due to poor awareness of this rare disease among Chinese clinicians (32). Clinical phenotypic heterogeneity and non-specificity are critical clinical features of AIP (33), mirrored in our investigation by the multiple departments visited by AIP patients.…”

Section: The International Porphyrin Collaboration Has Beenmentioning

confidence: 80%

Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China

Tian

et al. 2022

Ann Transl Med

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Background: Acute intermittent porphyria (AIP) is a rare inherited disorder with extremely low prevalence. Early detection of patients with potential pathogenic hydroxymethylbilane synthase (HMBS) variants is crucial for clinical prognosis. This study was designed to investigate the prevalence of pathogenic HMBS variants in Chinese population. Methods:The China Metabolic Analysis Project (ChinaMAP) database was employed to predict the prevalence of pathogenic HMBS variants in the Chinese population according to the variant interpretation guidelines of The American College of Medical Genetics and Genomics (ACMG). And the prevalence of pathogenic HMBS variants in Mixed American (AMR), African/African American (AFR), and Non-Finnish European (NFE) populations were estimated based on the Genome Aggregation Database (gnomAD) genome V3.0 database according to the guidelines of ACMG. An epidemiological investigation of AIP was conducted in Hebei Province, China through collecting the annual newly-diagnosed AIP cases of inpatients in 32 comprehensive grade III A hospitals from January 2011 to December 2020 in Hebei, China.Results: A total of 5 pathogenic/likely pathogenic (P/LP) HMBS variants were identified and the prevalence of pathogenic HMBS variants was predicted to be 1/1,765. Furthermore, based on the gnomAD genome V3.0 database, the estimated prevalence of pathogenic HMBS variants was 1/1,367, 1/1,403, and 1/621 in AMR, AFR, and NFE populations, respectively. The distribution of these variants varied among different racial populations. Moreover, AIP patients were predominantly hospitalized in comprehensive grade III A tertiary hospitals in Hebei province over a 10-year period. A total of 39 patients were newly-diagnosed with AIP, and a majority of them were female (n=36). The annual incidence between 2011 and 2017 {0.03 [95% confidence interval (CI): 0.01 to 0.11] to 0.05 (95% CI: 0.07 to 0.14) per million population} was generally lower than [0.07 (95% CI: 0.03 to 0.17) to 0.08 (95% CI: 0.03 to 0.18) per million] in 2018 and thereafter.Conclusions: China has made great strides in the management of AIP. More nationwide epidemiological surveys and study of the prevalence rate of AIP patients in China are urgently required.

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A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family

Cited by 5 publications

References 22 publications

Recent advances in the epidemiology and genetics of acute intermittent porphyria

Recent advances in the epidemiology and genetics of acute intermittent porphyria

Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations

Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China

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