Abstract:
: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.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Fujita A,Isidor B,Piloquet H,Corre P,Okamoto N,Nakashima M,Tsurusaki Y,Saitsu H,Miyake N,Matsumoto Ndoi
10.1038/jhg.2016.54subject
Has Abstractpub_date
2016-09-01 00:00:00pages
835-8issue
9eissn
1434-5161issn
1435-232Xpii
jhg201654journal_volume
61pub_type
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