PMID- 35255927
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220318
IS  - 1731-2302 (Print)
IS  - 1897-4287 (Electronic)
IS  - 1731-2302 (Linking)
VI  - 20
IP  - 1
DP  - 2022 Mar 7
TI  - Multiple endocrine neoplasia type 1: a new germline "homozygous" variant 
      (c.201delC) caused by detection errors.
PG  - 10
LID - 10.1186/s13053-022-00216-2 [doi]
LID - 10
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer 
      syndrome caused by germline variants in the MEN1 gene located on chromosome 
      11q13. We found a Chinese woman who had a pancreatic tumor, parathyroid tumor, 
      adrenal tumor, and suspicion of gastrinoma. CASE PRESENTATION: The proband and 
      her immediate family members underwent genetic detection. The results showed that 
      two of the proband's six relatives had the same variants as the proband, and her 
      sister also had the typical symptoms of MEN1. However, the first- and second-time 
      genetic detection results showed that they were homozygous variants, which did 
      not conform to Mendelian inheritance laws. Multiplex ligation-dependent probe 
      amplification (MLPA) was used to rule out homozygous variants caused by a 
      deletion of gene fragments in the proband and her immediate family members. The 
      MLPA results showed that the gene deletion was absent in the MEN1. The results 
      from the third genetic detection (redesigned the primer) showed that they had a 
      heterozygous variant. A new MEN1 germline variant [c.201delC (p.Ala68Profs*51)], 
      which could induce MEN1, was found in this study. CONCLUSIONS: This newly 
      identified germline variant could improve the identification of clinical 
      phenotypes and the early diagnosis of MEN1. Clinician should consider the present 
      of situation that intron variant causing detection error. Re-designing the 
      primers close to the variant site for gene detection could avoid this situation.
CI  - (c) 2022. The Author(s).
FAU - Zhang, Fan
AU  - Zhang F
AUID- ORCID: 0000-0002-0176-2715
AD  - Department of Hematology, Shengjing Hospital of China Medical University, 
      Shenyang, China.
AD  - Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key 
      Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of 
      China Medical University, 110001, Shenyang, Liaoning Province, P. R. China.
FAU - Yu, Xiaohui
AU  - Yu X
AUID- ORCID: 0000-0003-4802-9673
AD  - Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key 
      Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of 
      China Medical University, 110001, Shenyang, Liaoning Province, P. R. China.
FAU - Wang, Xiaoli
AU  - Wang X
AUID- ORCID: 0000-0002-9388-0734
AD  - Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key 
      Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of 
      China Medical University, 110001, Shenyang, Liaoning Province, P. R. China.
FAU - Shao, Hua
AU  - Shao H
AUID- ORCID: 0000-0002-4458-2423
AD  - Department of General Surgery, Shengjing Hospital of China Medical University, 
      Shenyang, China. jacob_sh@126.com.
LA  - eng
GR  - 81500605/national natural science foundation of china/
PT  - Journal Article
DEP - 20220307
PL  - Poland
TA  - Hered Cancer Clin Pract
JT  - Hereditary cancer in clinical practice
JID - 101231179
PMC - PMC8900317
OTO - NOTNLM
OT  - Exon
OT  - Germline variant
OT  - MEN1
OT  - Multiple endocrine neoplasia type 1
OT  - Sanger sequencing
COIS- All authors declare that they have no conflict of interest.
EDAT- 2022/03/09 06:00
MHDA- 2022/03/09 06:01
PMCR- 2022/03/07
CRDT- 2022/03/08 05:33
PHST- 2021/10/18 00:00 [received]
PHST- 2022/02/21 00:00 [accepted]
PHST- 2022/03/08 05:33 [entrez]
PHST- 2022/03/09 06:00 [pubmed]
PHST- 2022/03/09 06:01 [medline]
PHST- 2022/03/07 00:00 [pmc-release]
AID - 10.1186/s13053-022-00216-2 [pii]
AID - 216 [pii]
AID - 10.1186/s13053-022-00216-2 [doi]
PST - epublish
SO  - Hered Cancer Clin Pract. 2022 Mar 7;20(1):10. doi: 10.1186/s13053-022-00216-2.