Ocasionalmente, estos reordenamientos genómicos pueden incluir el gen GPC4. Los reordenamientos genómicos y las mutaciones puntuales que incluyen el gen GPC3 (“Glypican-3 gene”) localizado en la región cromosómica Xq26, se han asociado con la aparición del SSGB. También pueden presentar discapacidad intelectual, retraso motor precoz y retraso en el habla, aunque en su mayoría, estos individuos presentan una inteligencia dentro de los límites normales. Otras características que pueden presentar estos pacientes incluyen anomalías en el aparato esquelético, el corazón, el sistema nervioso central, el riñón y el tracto gastrointestinal. 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.Įl Síndrome de Simpson-Golabi-Behmel (SSGB) es un Síndrome de sobrecrecimiento raro, que se caracteriza clínicamente por múltiples anomalías congénitas, sobrecrecimiento pre y post natal, rasgos craneofaciales distintivos, macrocefalia y organomegalia.
Glypicans are heparan sulfate proteoglycans which have a role in the control of cell growth and cell division.Īlthough 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. Occasionally, these rearrangements also include the glypican-4 gene ( GPC4). Genomic rearrangements and point mutations involving the glypican-3 gene ( GPC3) at Xq26 have been shown to be associated with SGBS. Intellectual disability, early motor milestones and speech delay are sometimes present however, there are a considerable number of individuals with normal intelligence. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. 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.