Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0017168 (
gastroesophageal reflux disease
)
11,783
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. 2722 50
