PMID- 31937257
OWN - NLM
STAT- MEDLINE
DCOM- 20200303
LR  - 20210110
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 21
IP  - 1
DP  - 2020 Jan 14
TI  - Clinical and genetic analysis of two wolfram syndrome families with high 
      occurrence of wolfram syndrome and diabetes type II: a case report.
PG  - 13
LID - 10.1186/s12881-020-0950-4 [doi]
LID - 13
AB  - BACKGROUND: Mutations of the WFS1 gene are responsible for most cases of Wolfram 
      syndrome (WS), a rare, recessively inherited neurodegenerative disorder 
      characterized by juvenile-onset non-autoimmune diabetes mellitus and optic 
      atrophy. Variants of WFS1 are also associated with non-syndromic hearing loss and 
      type-2 diabetes mellitus (T2DM). Our study adds to literature significant 
      associations between WS and T2DM. CASE PRESENTATION: In this study, we analyzed 
      the clinical and genetic data of two families with high prevalence of WS and 
      T2DM. Genetic linkage analysis and DNA sequencing were exploited to identify 
      pathogenic variants. One novel pathogenic variant (c.2243-2244insC) and one known 
      pathogenic (c.1232_1233delCT) (frameshift) variant were identified in exon eight 
      of WFS1 gene. CONCLUSIONS: The mutational and phenotypic spectrum of WS is 
      broadened by our report of novel WFS1 mutation. Our results reveal the value of 
      molecular analysis of WFS1 in the improvement of clinical diagnostics for WS. 
      This study also confirms the role of WFS1 in T2DM.
FAU - Sobhani, Maryam
AU  - Sobhani M
AD  - Blood Transfusion Research Center, High Institute for Research and Education in 
      Transfusion Medicine, Tehran, Iran.
FAU - Tabatabaiefar, Mohammad Amin
AU  - Tabatabaiefar MA
AD  - Department of Genetics and Molecular Biology, School of Medicine, Isfahan 
      University of Medical Sciences, Isfahan, Iran.
AD  - Pediatric Inherited Diseases Research Center, Research Institute for Primordial 
      Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, 
      Isfahan, Iran.
FAU - Ghafouri-Fard, Soudeh
AU  - Ghafouri-Fard S
AD  - Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, 
      Tehran, Iran.
FAU - Rajab, Asadollah
AU  - Rajab A
AD  - Iranian Diabetes Society, Tehran, Iran.
FAU - Hojjat, Asal
AU  - Hojjat A
AD  - Pediatric Urology Research Center, Department of Pediatric Urology, Children's 
      Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
FAU - Kajbafzadeh, Abdol-Mohammad
AU  - Kajbafzadeh AM
AD  - Pediatric Urology Research Center, Department of Pediatric Urology, Children's 
      Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
FAU - Noori-Daloii, Mohammad Reza
AU  - Noori-Daloii MR
AD  - Department of Medical Genetics, School of Medicine, Tehran University of Medical 
      Sciences, Tehran, Iran. mohrezanoori@yahoo.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200114
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (Membrane Proteins)
RN  - 0 (wolframin protein)
SB  - IM
EIN - BMC Med Genet. 2020 Mar 20;21(1):58. PMID: 32197577
MH  - Adult
MH  - Child
MH  - Diabetes Mellitus, Type 2/complications/*genetics/pathology
MH  - Exons/genetics
MH  - Female
MH  - Frameshift Mutation/genetics
MH  - Genetic Linkage
MH  - Genetic Predisposition to Disease
MH  - *Genetic Testing
MH  - Hearing Loss/complications/genetics/pathology
MH  - Humans
MH  - Iran/epidemiology
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Optic Atrophy/complications/genetics/pathology
MH  - Pedigree
MH  - Phenotype
MH  - Point Mutation/genetics
MH  - Wolfram Syndrome/complications/*genetics/pathology
MH  - Young Adult
PMC - PMC6961406
OTO - NOTNLM
OT  - Diabetes
OT  - Gene
OT  - Iran
OT  - WFS1
OT  - Wolfram syndrome
COIS- The authors declare that they have no competing interests.
EDAT- 2020/01/16 06:00
MHDA- 2020/03/04 06:00
PMCR- 2020/01/14
CRDT- 2020/01/16 06:00
PHST- 2019/06/20 00:00 [received]
PHST- 2020/01/07 00:00 [accepted]
PHST- 2020/01/16 06:00 [entrez]
PHST- 2020/01/16 06:00 [pubmed]
PHST- 2020/03/04 06:00 [medline]
PHST- 2020/01/14 00:00 [pmc-release]
AID - 10.1186/s12881-020-0950-4 [pii]
AID - 950 [pii]
AID - 10.1186/s12881-020-0950-4 [doi]
PST - epublish
SO  - BMC Med Genet. 2020 Jan 14;21(1):13. doi: 10.1186/s12881-020-0950-4.