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De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux
- Source :
- Journal of Human Genetics, Journal of Human Genetics, Nature Publishing Group, 2016, 61 (9), pp.835-838. ⟨10.1038/jhg.2016.54⟩
- Publication Year :
- 2016
- Publisher :
- Springer Science and Business Media LLC, 2016.
-
Abstract
- International audience; MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we report a female patient with a de novo nonsense mutation (c.611C>G, p.Ser204*) in MEIS2. She showed severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux and constipation. By reviewing this patient and previous patients with MEIS2 point mutations, we found that feeding difficulty with gastro-esophageal reflux appears to be one of the core clinical features of MEIS2 haploinsufficiency, in addition to intellectual disability, cleft palate and cardiac septal defect.
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
Constipation
Genotype
Developmental Disabilities
DNA Mutational Analysis
Nonsense mutation
030105 genetics & heredity
Biology
03 medical and health sciences
Intellectual disability
Genetics
medicine
Humans
Exome
Genetics (clinical)
Homeodomain Proteins
Point mutation
Reflux
Facies
High-Throughput Nucleotide Sequencing
Infant
[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology
Syndrome
medicine.disease
Phenotype
030104 developmental biology
Statistical genetics
Mutation
Gastroesophageal Reflux
Medical genetics
Female
medicine.symptom
Haploinsufficiency
[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
Transcription Factors
Subjects
Details
- ISSN :
- 1435232X and 14345161
- Volume :
- 61
- Database :
- OpenAIRE
- Journal :
- Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....dded784d15a93c92cead9325c7cf18c6