American Journal of Medical Genetics Part A

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France

Abstract In this study, we describe the biological immune profiles and clinical dysimmune manifestations (infections, autoimmune diseases, and allergies) of patients with 22q11.2 deletion syndrome with the aim of determining risk factors for clinical events. This retrospective study concerned all the patients with 22q11 deletion syndrome attending the Montpellier University Hospital from January 1, 1992, to December 31, 2014 who had at least one immune investigation before the age of 18. We analyzed...

American Journal of Medical Genetics Part A

Fri Aug 30, 2019 20:28

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 Clinical Genetics

Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement

Clinical Genetics

Fri Aug 30, 2019 12:13

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 Human Genetics

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates

Abstract The glutamate pyruvate transaminase 2 (GPT2) gene produces a nuclear-encoded mitochondrial enzyme that catalyzes the reversible transfer of an amino group from glutamate to pyruvate, generating alanine and alpha-ketoglutarate. Recessive mutations in GPT2 have been recently identified in a new syndrome involving intellectual and developmental disability (IDD), postnatal microcephaly, and spastic paraplegia. We have identified additional families with recessive GPT2 mutations...

Human Genetics

Fri Aug 30, 2019 03:00