De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-09

AUTHORS

Atsushi Fujita, Bertrand Isidor, Hugues Piloquet, Pierre Corre, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto

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. More... »

PAGES

835-838

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2016.54

DOI

http://dx.doi.org/10.1038/jhg.2016.54

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1006854986

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27225850


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