Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review

被引：1

作者：

Nisbet, Alex F. ^{[1
,2
]}

Viswanathan, Aravind ^{[1
]}

George, Andrew M. ^{[1
]}

Arias, Pedro ^{[3
,4
,5
]}

Klein, Steven D. ^{[1
]}

Nevado, Julian ^{[3
,4
,5
]}

Parra, Alejandro ^{[3
,4
,5
]}

Pascual, Patricia ^{[3
,4
,5
]}

Romeo, Dominic J. ^{[2
,6
]}

Tenorio-Castano, Jair ^{[3
,4
,5
]}

Taylor, Jesse A. ^{[6
]}

Zackai, Elaine H. ^{[1
]}

Lapunzina, Pablo ^{[3
,4
,5
]}

Kalish, Jennifer M. ^{[1
,7
,8
]}

机构：

[1] Childrens Hosp Philadelphia, Div Human Genet, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA

[2] Univ Penn, Perelman Sch Med, Philadelphia, PA USA

[3] Ctr Invest Biomed Red Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain

[4] Hosp Univ La Paz, Inst Med & Mol Genet, INGEMM IdiPaz, Madrid, Spain

[5] European Reference Network, ITHACA, Brussels, Belgium

[6] Childrens Hosp Philadelphia, Div Plast Reconstruct & Oral Surg, Philadelphia, PA USA

[7] Univ Penn, Perelman Sch Med, Dept Pediat & Genet, Philadelphia, PA USA

[8] Childrens Hosp Philadelphia, Ctr Childhood Canc Res, Philadelphia, PA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2024年 / 194卷 / 12期

关键词：

cancer predisposition; cancer risk; macroglossia; macrosomia; overgrowth; Simpson-Golabi-Behmel syndrome; BECKWITH-WIEDEMANN; CLINICAL OVERLAP; SYNDROME TYPE-1; GPC3; GENE; PATIENT; DIAGNOSIS; HEPATOBLASTOMA; MUTATIONS; DYSPLASIA; MALES;

D O I：

10.1002/ajmg.a.63840

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2. Here, we performed a comprehensive literature review and phenotyping of known patients with molecularly confirmed SGBS and reviewed a novel cohort of 22 patients. Using these data, we characterized the tumor risk for Wilms tumor and hepatoblastoma to suggest appropriate screening for this patient population. In addition, we discuss the phenotypic overlap between SGBS and Beckwith-Wiedemann Spectrum.

引用

页数：13

共 48 条

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