PMID- 28103792
OWN - NLM
STAT- MEDLINE
DCOM- 20170922
LR  - 20231213
IS  - 1471-2156 (Electronic)
IS  - 1471-2156 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Jan 19
TI  - Diagnosis implications of the whole genome sequencing in a large Lebanese family 
      with hyaline fibromatosis syndrome.
PG  - 3
LID - 10.1186/s12863-017-0471-0 [doi]
LID - 3
AB  - BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a recently introduced 
      alternative term for two disorders that were previously known as juvenile hyaline 
      fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants 
      are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located 
      on chromosome 4q21. The main clinical features of both entities include papular 
      and/or nodular skin lesions, gingival hyperplasia, joint contractures and 
      osteolytic bone lesions that appear in the first few years of life, and the 
      syndrome typically progresses with the appearance of new lesions. METHODS: We 
      describe five Lebanese patients from one family, aged between 28 and 58 years, 
      and presenting with nodular and papular skin lesions, gingival hyperplasia, joint 
      contractures and bone lesions. Because of the particular clinical features and 
      the absence of a clinical diagnosis, Whole Genome Sequencing (WGS) was carried 
      out on DNA samples from the proband and his parents. RESULTS: A mutation in 
      ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted. CONCLUSIONS: The 
      main goal of this paper is to add to the knowledge related to the clinical and 
      radiographic aspects of HFS in adulthood and to show the importance of 
      Next-Generation Sequencing (NGS) techniques in resolving such puzzling cases.
FAU - Haidar, Zahraa
AU  - Haidar Z
AD  - Unite de Genetique Medicale, Faculte de Medecine, Universite Saint-Joseph, 
      Beirut, Lebanon.
FAU - Temanni, Ramzi
AU  - Temanni R
AD  - Bioinformatics Division, Sidra Medical & Research Center, Doha, Qatar.
FAU - Chouery, Eliane
AU  - Chouery E
AUID- ORCID: 0000-0002-6257-6609
AD  - Unite de Genetique Medicale, Faculte de Medecine, Universite Saint-Joseph, 
      Beirut, Lebanon.
FAU - Jithesh, Puthen
AU  - Jithesh P
AD  - Bioinformatics Division, Sidra Medical & Research Center, Doha, Qatar.
FAU - Liu, Wei
AU  - Liu W
AD  - Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & 
      Research Center, Doha, Qatar.
FAU - Al-Ali, Rashid
AU  - Al-Ali R
AD  - Bioinformatics Division, Sidra Medical & Research Center, Doha, Qatar.
FAU - Wang, Ena
AU  - Wang E
AD  - Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & 
      Research Center, Doha, Qatar.
FAU - Marincola, Francesco M
AU  - Marincola FM
AD  - Research office, Sidra Medical & Research Center, Doha, Qatar.
FAU - Jalkh, Nadine
AU  - Jalkh N
AD  - Unite de Genetique Medicale, Faculte de Medecine, Universite Saint-Joseph, 
      Beirut, Lebanon.
FAU - Haddad, Soha
AU  - Haddad S
AD  - Department of Radiology, Hotel Dieu de France University hospital-Beirut, Beirut, 
      Lebanon.
FAU - Haidar, Wassim
AU  - Haidar W
AD  - Department of General surgery, Dar Al Amal University Hospital-Baalbeck, 
      Baalbeck, Lebanon.
FAU - Chouchane, Lotfi
AU  - Chouchane L
AD  - Laboratory of Genetic Medicine and Immunology, Weill Cornell Medicine-Qatar, 
      Doha, Qatar.
FAU - Megarbane, Andre
AU  - Megarbane A
AD  - Institut Jerome Lejeune, 37, rue des Volontaires, Paris, 75015, France. 
      andre.megarbane@yahoo.fr.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20170119
PL  - England
TA  - BMC Genet
JT  - BMC genetics
JID - 100966978
RN  - 0 (ANTXR2 protein, human)
RN  - 0 (Receptors, Peptide)
SB  - IM
EIN - BMC Genet. 2017 Feb 1;18(1):9. PMID: 28148224
MH  - Adult
MH  - *Amino Acid Substitution
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study/*methods
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - Hyaline Fibromatosis Syndrome/*diagnostic imaging/genetics
MH  - Lebanon
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Receptors, Peptide/*genetics
MH  - Sequence Analysis, DNA/*methods
PMC - PMC5244738
OTO - NOTNLM
OT  - Anthrax toxin receptor 2 gene
OT  - Hyaline fibromatosis syndrome
OT  - Infantile systemic hyalinosis
OT  - Juvenile hyaline fibromatosis
OT  - Whole genome sequencing
EDAT- 2017/01/21 06:00
MHDA- 2017/09/25 06:00
PMCR- 2017/01/19
CRDT- 2017/01/21 06:00
PHST- 2016/10/06 00:00 [received]
PHST- 2017/01/10 00:00 [accepted]
PHST- 2017/01/21 06:00 [entrez]
PHST- 2017/01/21 06:00 [pubmed]
PHST- 2017/09/25 06:00 [medline]
PHST- 2017/01/19 00:00 [pmc-release]
AID - 10.1186/s12863-017-0471-0 [pii]
AID - 471 [pii]
AID - 10.1186/s12863-017-0471-0 [doi]
PST - epublish
SO  - BMC Genet. 2017 Jan 19;18(1):3. doi: 10.1186/s12863-017-0471-0.