A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)
| Autor: | Marc Obeid, Valérie Delague, Anne-Celine Gillart, Lara El-Bazzal, Alexandre Atkinson, André Mégarbané |
|---|---|
| Přispěvatelé: | Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Jérôme Lejeune, American University of Science and Technology (AUST) |
| Rok vydání: | 2018 |
| Předmět: |
Male
Microcephaly Developmental Disabilities Mutation Missense Genes Recessive Biology N-Acetylglucosaminyltransferases 03 medical and health sciences symbols.namesake 0302 clinical medicine Seizures Genetics medicine Missense mutation Recessive Humans Homozygous Child Gene Genetics (clinical) Exome sequencing 030304 developmental biology Sanger sequencing 0303 health sciences [SDV.GEN]Life Sciences [q-bio]/Genetics EXT2 General Medicine Syndrome medicine.disease AREXT2 Hypotonia 3. Good health Pedigree Osteopenia Bone Diseases Metabolic Phenotype Mutation (genetic algorithm) Mutation symbols Intellectual deficiency Female medicine.symptom 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Medical Genetics European Journal of Medical Genetics, Elsevier, 2018, 62 (4), pp.259-264. ⟨10.1016/j.ejmg.2018.07.025⟩ |
| ISSN: | 1878-0849 1769-7212 |
| Popis: | International audience; We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole exome sequencing performed in one of the boys revealed the presence of a novel homozygous missense variant in the EXT2 gene: c.11C > T (p.Ser4Leu). Segregation analysis by Sanger sequencing confirmed homozygous by descent autosomal recessive transmission of this mutation. Another family was previously reported with homozygous mutations in this gene in four siblings affected with a nearly similar clinical condition (Farhan et al., 2015). We discuss the similarities and differences between the two syndromes and propose AREXT2 as a new acronym for EXT2-related diseases. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect