Identification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System

被引：61

作者：

Denadai, Rafael ^{[2
]}

Raposo-Amaral, Cassio E. ^{[1
]}

Bertola, Debora ^{[3
]}

Kim, Chong ^{[3
]}

Alonso, Nivaldo ^{[4
]}

Hart, Thomas ^{[5
]}

Han, Sangwoo ^{[6
]}

Stelini, Rafael F. ^{[7
]}

Buzzo, Celso L. ^{[1
]}

Raposo-Amaral, Cesar A. ^{[1
]}

Hart, P. Suzanne ^{[8
]}

机构：

[1] Brazilian Soc Res & Assistance Craniofacial Rehab, Inst Plast & Craniofacial Surg, BR-13094776 Campinas, SP, Brazil

[2] Marilia Univ, Sch Med Sci, Marilia, SP, Brazil

[3] Univ Sao Paulo, Fac Med, Dept Pediat, Genet Unit,Inst Crianca,Hosp Clin, Sao Paulo, Brazil

[4] Univ Sao Paulo, Fac Med, Dept Surg, Div Plast Surg, Sao Paulo, Brazil

[5] NIDCR, Human Craniofacial Genet Sect, NIH, Bethesda, MD USA

[6] NIDR, NIH, Bethesda, MD 20892 USA

[7] State Univ Campinas UNICAMP, Sch Med Sci, Dept Anat Pathol, Campinas, SP, Brazil

[8] NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 04期

关键词：

anthrax toxin receptor 2 protein; capillary morphogenesis protein-2; hyaline fibromatosis syndrome; infantile systemic hyalinosis; juvenile hyaline fibromatosis; OF-THE-LITERATURE; CAPILLARY MORPHOGENESIS PROTEIN-2; FOLLOW-UP; JUVENILE; GENE; INFANT;

D O I：

10.1002/ajmg.a.35228

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2012 Wiley Periodicals, Inc.

引用

页码：732 / 742

页数：11

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