Work

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

Year: 2024

Type: article

Abstract: 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.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.63840

Authors: Alex F. Nisbet, Aravind Viswanathan, Andrew M. George, Pedro Arias, Steven D. Klein, Julian Nevado, Alejandro Parra, Patricia Pascual, Dominic J. Romeo, Jair Tenorio‐Castaño, Jesse A. Taylor, Elaine H. Zackai, Pablo Lapunzina, Jennifer M. Kalish

Institutions: Children's Hospital of Philadelphia, University of Pennsylvania, Hospital Universitario La Paz, Instituto de Salud Carlos III, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,490

Funders: Damon Runyon Cancer Research Foundation, Alex's Lemonade Stand Foundation for Childhood Cancer, Federación Española de Enfermedades Raras, Instituto de Salud Carlos III, National Human Genome Research Institute, National Cancer Institute, National Institute of General Medical Sciences

Awards: Aplicación de técnicas genómicas (genoma completo y 4C-Seq para TDA) en pacientes con síndromes de sobrecrecimiento., G2620658983, ONTOPREC. Implementación de Ontologías, taxonomías y estandarización de las enfermedades crónicas en Medicina de Precisión. Uso de los escores de riesgo poligénicos (PRS) como casos de uso., Integración de los biomarcadores de metilación genómica global (metiloma) en pacientes con sospecha de enfermedades raras, como complemento diagnóstico: desentrañando las variantes de significado incierto., The Mechanism of Tumor Formation in Beckwith-Wiedemann Syndrome, G7512982775, G8250209217, Medical Genetics Research Training Grant

OpenAlex ID: W4401686484

FWCI: 3.439

Cites: 45

Cited by: 13

Related to: 10