Unknown

Dataset Information

0

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

ABSTRACT: Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included.

SUBMITTER: Denadai R 

PROVIDER: S-EPMC4264531 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Denadai Rafael R   Raposo-Amaral Cassio E CE   Bertola Débora D   Kim Chong C   Alonso Nivaldo N   Hart Thomas T   Han Sangwoo S   Stelini Rafael F RF   Buzzo Celso L CL   Raposo-Amaral Cesar A CA   Hart P Suzanne PS  

American journal of medical genetics. Part A 20120301 4

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair o  ...[more]

Similar Datasets

Unknown CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.
| S-EPMC5472780 | biostudies-literature
Unknown Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation.
| S-EPMC9245060 | biostudies-literature
Unknown Hyaline fibromatosis syndrome: cutaneous manifestations.
| S-EPMC4861574 | biostudies-literature
Unknown Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder.
| S-EPMC5029258 | biostudies-literature
Unknown Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
| S-EPMC7284039 | biostudies-literature
Unknown Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
| S-EPMC3377065 | biostudies-literature
Unknown Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report.
| S-EPMC4158768 | biostudies-literature
Unknown Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
| S-EPMC6712857 | biostudies-literature
Unknown The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
| S-EPMC5970508 | biostudies-literature
Unknown Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
| S-EPMC5244738 | biostudies-literature