A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

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Clinical and Neuroimaging Characterization of Chinese Dementia Patients with PSEN1 and PSEN2 Mutations

Dementia and Geriatric Cognitive Disorders ◽

10.1159/000366272 ◽

2014 ◽

Vol 39 (1-2) ◽

pp. 32-40 ◽

Cited By ~ 18

Author(s):

Zhihong Shi ◽

Ying Wang ◽

Shuai Liu ◽

Mengyuan Liu ◽

Shuling Liu ◽

...

Keyword(s):

Early Onset ◽

Late Onset ◽

Novel Mutation ◽

Chinese Patients ◽

Phenotypic Traits ◽

Chinese Han ◽

Risk Variants ◽

Dementia Patients ◽

Positron Emission ◽

Neurodegenerative Dementia

Background: Alzheimer's disease (AD) and frontotemporal dementia (FTD) are two common forms of primary neurodegenerative dementia. Mutations in 3 genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset AD. Methods: We performed gene sequencing in PSEN1, PSEN2, and APP in 61 AD and 35 FTD Chinese patients. Amyloid load using 11C-labeled Pittsburgh compound B (11C-PIB) positron emission tomography (PET) and cerebral glucose metabolism using 18F-fludeoxyglucose PET were evaluated in patients carrying mutations. Results: We identified 1 known pathogenic PSEN1 (p.His163Arg, c.488A>G) mutation and 3 novel PSEN2 mutations in 6 patients. The novel mutation PSEN2 (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient. The PSEN2 (p.Val214Leu, c.640G>T; p.Lys82Arg, c.245A>G) mutations were identified in 2 early-onset AD patients and 1 early-onset AD patient, respectively. Three patients with PSEN2 mutations were observed to have PIB retention on the cortex and striatum. One patient with the FTD phenotype was not observed to have PIB retention. Conclusion: PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD. Pathogenic mutations or risk variants in the PSEN2 gene can influence both FTD and AD phenotypic traits and show variations in neuroimaging characterization. © 2014 S. Karger AG, Basel

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Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F

Journal of International Medical Research ◽

10.1177/0300060519862064 ◽

2019 ◽

Vol 48 (2) ◽

pp. 030006051986206

Author(s):

Yu-hui Chen ◽

Hua Zhang ◽

Ling-bing Meng ◽

Xiao-yan Tang ◽

Tao Gong ◽

...

Keyword(s):

Novel Mutation ◽

Chinese Patients ◽

Homozygous Mutation ◽

Hereditary Neuropathy ◽

Limb Weakness ◽

Pes Cavus ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Protein Levels ◽

First Case

Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. Mutations in the periaxin gene ( PRX) can cause CMT type 4F, an autosomal recessive neuropathy, which is clinically characterized by slowly progressive distal muscle atrophy and weakness, with pes cavus deformity of the foot, and the absence of deep tendon reflexes. To date, dozens of reports of PRX mutations have been published worldwide, but none have been reported in Chinese patients. Here, we describe a 14-year-old Chinese boy with neuropathy characterized by slowly progressive limb weakness and atrophy, as well as sensory ataxia, whose cerebrospinal protein levels were 1627 mg/L. Genetic analysis identified a novel homozygous mutation, c.1174C>T (p.R392X), in exon 6 of PRX, which is the first case of its kind recorded in China.

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