Novel mutations in the <i>MEN1</i> gene in subjects with multiple endocrine neoplasia‐1

Jap, Tjin-Shing; Chiu, C. J.; Won, Justin G.S.; Wu, YingXing; Chen, Harn Shen

doi:10.1111/j.1365-2265.2005.02219.x

Cited by 11 publications

(10 citation statements)

References 32 publications

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“…In many recent studies, novel MEN1 gene mutations were reported (21,22). Novel missense mutations accounted for 15% of the total mutations, and the possibility that a novel splice donor mutation, as in our case, is a rare nonpathogenic event cannot be excluded.…”

Section: Discussionmentioning

confidence: 50%

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism

Frank‐Raue¹,

Rondot²,

Hoeppner³

et al. 2005

The Journal of Clinical Endocrinology & Metabolism

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Section: Discussionmentioning

confidence: 50%

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism

Frank‐Raue¹,

Rondot²,

Hoeppner³

et al. 2005

The Journal of Clinical Endocrinology & Metabolism

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“…Most of the previous studies were case reports with the biggest sample size of 12 patients (6 sporadic and 6 familial cases) [20]. In all reported cases, 31 MEN1 mutations were detected in 32 MEN1 families (96.9%) and 3 MEN1 mutations were reported in 6 sporadic MEN1 patients (50%)[8, 9, 20–28]. Sporadic MEN1 cases were included in only one of these studies [20], which suggests that selection and publication bias might be present and therefore, real MEN1 mutation rate could not be accurately calculated from these studies.…”

Section: Discussionmentioning

confidence: 99%

“…To date, little is known about the clinical spectrum and genetic background of MHPT patients in China [8, 9]. Therefore, we compared the clinical characteristics of MHPT to those of SHPT in Chinese patients using a relatively large sample size and included details on severity of the disease, biochemical parameters and radiographic results.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese

Kong¹,

Wang²,

Nie³

et al. 2016

PLoS ONE

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ObjectiveMultiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT.Design and MethodsA total of 40 MHPT (27 sporadic, 7 families) and 169 SHPT cases of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary system. Dual energy x-ray absorptiometry (DXA) were performed to measure bone mineral density (BMD). Besides direct sequencing of the MEN1 and CDKN1B genes, multiplex ligation-dependent probe amplification (MLPA) was used to screen gross deletion for the MEN1 gene.ResultsCompared with SHPT patients, MHPT patients showed lower prevalence of typical X-ray changes related to PHPT (26.3% vs. 55.7%, P = 0.001) but higher prevalence of urolithiasis/renal calcification (40.2% vs. 60.0%, P = 0.024). MHPT patients showed higher phosphate level (0.84 vs. 0.73mmol/L, P<0.05) but lower ALP (103.0 vs. 174.0U/L, P<0.001) and PTH (4.0 vs. 9.8×upper limit, P<0.001) levels than SHPT patients. There were no significant differences in BMD Z-scores at the lumbar spine and femoral neck between the two groups. Mutations in the MEN1 gene were detected in 27 MHPT cases. Among the nine novel mutations were novel, one of them involved the deletion of exon 5 and 6.ConclusionsMHPT patients experienced more common kidney complications but less skeletal issues, and a milder biochemical manifestation compared with SHPT patients. MEN1 mutation detection rate was 79.4% and 9 of the identified mutations were novel.

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“…Since the cloning of the MEN1 gene, genetic screening of patients/families with MEN1 has been performed extensively in Europe, 10,28–30 North America 3,11,20 and Australia, 31,32 and less extensively in Asia 33,34 . Analysis of multiethnic cohorts with MEN1 can more precisely define the clinical and genetic features of this complex syndrome.…”

Section: Discussionmentioning

confidence: 99%

Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1

Toledo

Lourenço

Coutinho

et al. 2007

Clinical Endocrinology

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Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia‐1

Abstract: We have identified four novel mutations in the MEN1 gene in patients with MEN1 in Taiwan.

Cited by 11 publications

References 32 publications

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism

Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism

Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese

Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1

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