PMID- 25166435
OWN - NLM
STAT- MEDLINE
DCOM- 20141113
LR  - 20191113
IS  - 1899-5276 (Print)
IS  - 1899-5276 (Linking)
VI  - 23
IP  - 4
DP  - 2014 Jul-Aug
TI  - Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from 
      the lower Silesian region of Poland.
PG  - 517-21
AB  - BACKGROUND: Neurofibromatosis type I (NF1, Recklinghausen's disease) is an 
      autosomal dominant disorder characterized by the following clinical features: 
      cafe au lait spots, neurofibromas, Lisch nodules, freckling of the axillary and 
      inguinal regions, optic nerve gliomas, bone dysplasia and increased risk of 
      certain tumors. NF1 is diagnosed on the basis of clinical criteria, while 
      identifying the genetic background of the disease is important mainly for genetic 
      counseling. NF1 genetic analysis is based on searching for NF1 exon 
      deletions/duplications using Multiplex ligation-dependent probe amplification 
      (MLPA), searching for microdeletions of the critical region using fluorescence in 
      situ hybridization (FISH), searching for point mutations by gene sequencing (in 
      most cases) and analyzing mRNA. OBJECTIVES: The aim of this study was to estimate 
      the frequency of single and multi-exon deletions/duplications in the NF1 gene in 
      Polish patients, and to evaluate the usefulness of MLPA as a cheap and easy 
      method for NF1 molecular diagnosis, despite the fact that such changes may be 
      found in only a small group of NF1 patients. MATERIAL AND METHODS: The study 
      included 65 patients suspected of NF1 or with recognized NF1 on the basis of 
      clinical criteria. Cytogenetic analysis were carried out for all the patients, 
      and for one patient with a translocation [46,XY,t(17;22)(q11.2;q11.2)], a FISH 
      analysis was performed. All patients were tested for deletions/duplications in 
      the NF1 gene using two MLPA kits for neurofibromatosis I. RESULTS: The MLPA 
      analysis showed deletions in the NF1 gene in 7.7% of the cases (5/65). 
      CONCLUSIONS: The results indicate that an MLPA analysis may be performed in 
      patients with a clinical diagnosis of NF1 or patients with suspected NF1 as an 
      easy and inexpensive first molecular test, enabling the exclusion of about 7% of 
      NF1 patients from expensive and time-consuming molecular diagnosis by DNA 
      sequencing.
FAU - Laczmanska, Izabela
AU  - Laczmanska I
AD  - Department of Genetics, Wroclaw Medical University, Poland.
FAU - Szczepaniak, Malgorzata
AU  - Szczepaniak M
AD  - Department of Genetics, Wroclaw Medical University, Poland.
FAU - Jakubiak, Aleksandra
AU  - Jakubiak A
AD  - Department of Genetics, Wroclaw Medical University, Poland.
FAU - Stembalska, Agnieszka
AU  - Stembalska A
AD  - Department of Genetics, Wroclaw Medical University, Poland.
LA  - eng
PT  - Journal Article
PL  - Poland
TA  - Adv Clin Exp Med
JT  - Advances in clinical and experimental medicine : official organ Wroclaw Medical 
      University
JID - 101138582
SB  - IM
MH  - *Exons
MH  - *Gene Deletion
MH  - *Genes, Neurofibromatosis 1
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Multiplex Polymerase Chain Reaction
MH  - Neurofibromatosis 1/*genetics
EDAT- 2014/08/29 06:00
MHDA- 2014/11/14 06:00
CRDT- 2014/08/29 06:00
PHST- 2014/08/29 06:00 [entrez]
PHST- 2014/08/29 06:00 [pubmed]
PHST- 2014/11/14 06:00 [medline]
AID - 10.17219/acem/37216 [doi]
PST - ppublish
SO  - Adv Clin Exp Med. 2014 Jul-Aug;23(4):517-21. doi: 10.17219/acem/37216.