Simpson-Golabi-Behmel syndrome types I and II

Orphanet Journal of Rare Diseases

Pablo Lapunzina³  Julián Nevado²  Sixto García-Miñaur³  Fernando Santos³  Víctor Martínez-Glez²  Pedro Arias¹  Jair Tenorio¹ 

[1] Molecular Endocrinology ¿ Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid 28046, Spain;Structural and Functional Genomics - INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid 28046, Spain;Clinical Genetics - INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ- Instituto de Investigación Sanitaria del Hospital Universitario La Paz- Universidad Autónoma de Madrid- CIBERER- Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid 28046, Spain

关键词: X-linked disorder;    Congenital anomalies;    Glypican;    Rare disorders;    Macrocephaly;    GPC4;    GPC3;    Overgrowth;    Simpson-Golabi-Behmel Syndrome;   

Others  :  1228426
DOI  :  10.1186/s13023-014-0138-0

 received in 2014-07-11, accepted in 2014-08-25,  发布年份 2014

【 摘 要 】

Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number of individuals with normal intelligence.

Genomic rearrangements and point mutations involving the glypican-3 gene (GPC3) at Xq26 have been shown to be associated with SGBS. Occasionally, these rearrangements also include the glypican-4 gene (GPC4). Glypicans are heparan sulfate proteoglycans which have a role in the control of cell growth and cell division.

Although a lethal and infrequent form (also known as SGBS type II) has been described, only the classical form of SGBS is reviewed in this work, whereas only some specific features on SGBS type II are commented.

We review all clinical and molecular aspects of this rare disorder, updating many topics and suggest a follow-up scheme for geneticists and primary care clinicians.

【 授权许可】

   
2014 Tenorio et al.; licensee Biomed Central Ltd.

【 图 表 】

Figure 1.

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