Document Detail

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.
MedLine Citation:
PMID:  19291770     Owner:  NLM     Status:  MEDLINE    
Three autosomal recessive disorders are associated with mutations in the RECQL4 gene: Rothmund-Thomson syndrome (RTS), Baller-Gerold syndrome (BGS), and RAPADILINO syndrome. BGS is characterized by two major clinical abnormalities: craniosynostosis and preaxial limb anomalies but not cancer development. We performed RECQL4 mutation detection in a patient with BGS and several clinical signs of RTS who developed a midline NK/T-cell lymphoma. Sequencing was used to identify RECQL4 mutations, and RNA analysis was used to examine expression of mRNA in leukocytes. The patient was found to be compound heterozygous for two mutations in exon 15, namely c.[2492_2493delAT] + c.[2506_2518del13bp]. We found that only the allele with 13 bp deletion was expressed in blood leukocytes. Our patient showed severe phenotypic abnormalities, with clinical signs of both BGS and RTS. She developed an extranodal NK/T-cell lymphoma, which is extremely rare in children of her age and is the first described case of BGS with development of a cancer. This case of a RECQL4-related disorder highlights the significant phenotypic overlap between the classically delineated RECQL4-associated syndromes and questions the need to redefine or combine these clinical entities.
Marusa Debeljak; Aleksandra Zver; Janez Jazbec
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  149A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-03-31     Completed Date:  2009-06-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  755-9     Citation Subset:  IM    
Center for Medical Genetics, University Children's Hospital, University Medical Center, Ljubljana, Slovenia.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Base Sequence
Codon, Nonsense
Craniosynostoses / genetics*
DNA Mutational Analysis
DNA, Complementary / genetics
Frameshift Mutation
Genes, Recessive
Limb Deformities, Congenital / genetics*
Lymphoma, T-Cell / genetics*
Molecular Sequence Data
Nuclear Proteins / genetics
RecQ Helicases / genetics*
Rothmund-Thomson Syndrome / genetics
Sequence Deletion*
Twist Transcription Factor / genetics
Reg. No./Substance:
0/Codon, Nonsense; 0/DNA, Complementary; 0/Nuclear Proteins; 0/TWIST1 protein, human; 0/Twist Transcription Factor; EC 3.6.1.-/RECQL4 protein, human; EC 3.6.1.-/RecQ Helicases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with...
Next Document:  Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial an...