1 - Serviço Genética Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal
2 - Unidade de Imunodeficiências Primárias, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal
- European Society of Human Genetics Conference 2021 (Poster)
Introduction: Interstitial deletions of the long arm of chromosome 2 involving the 2q32q33 region encompass SATB2 gene. It's haploinsuffuciency results in SATB2-Associated-Syndrome (SAS), characterized by neurodevelopment disorders, behavioral issues, palatal abnormalities and facial dysmorphism. Within this region, genes involved in Immune Disorders can be identified, among them, CTLA4. CTLA4 haploinsufficiency is associated with autoimmune cytopenia, hypogammaglobulinemia, recurrent infections, diarrhea or inflammatory bowel disease.
Clinical Data: P1 is an 11-year-old boy, born at 36 weeks of gestation with cleft palate, micrognathia, left inguinal hernia and interatrial communication (IAC). He has psychomotor delay, hypotonia, hyperactivity, aggressiveness, epileptogenic activity, severe intellectual disability (ID), autoimmune thrombocytopenia, neutropenia and hemolytic anemia diagnosed at age 3. P2 is a 5-year-old boy, born at 38 weeks, with cleft palate, micrognathia, and IAC. He has severe psychomotor delay, behavior abnormalities, failure to thrive (at 14-months was placed with percutaneous endoscopic gastrostomy), epilepsy and recurrent infections.
Methods and Results: P1 microarray analysis identified a 12.2 Mb heterozygous deletion involving the interstitial chromosome region 2q32.3q33.3. P2 carried a 10.62 Mb heterozygous deletion involving the interstitial chromosome region 2q33.1q33.3. Both deletions encompass SATB2 and CTLA4 genes.
Conclusions: We believe the haploinsufficiency of both genes SATB2 and CTLA4, by 2q32q33.3 microdeletion, might explain the phenotype of these patients. This report brings to our attention that 2q32q33.3 microdeletion can be associated with immune alterations. Recognition of this clinical signs and symptoms is of the most importance for patients’ early referral for Immune Disorder Specialist.
Palavras Chave: Immune disorders, Neurodevelopment disorders, SATB2-Associated-Syndrome, 2q32q33 deletion