A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-04-16

AUTHORS

Liat Ashkenazi-Hoffnung, Yael Lebenthal, Alexander W. Wyatt, Nicola K. Ragge, Sumito Dateki, Maki Fukami, Tsutomu Ogata, Moshe Phillip, Galia Gat-Yablonski

ABSTRACT

Heterozygous mutations of the gene encoding transcription factor OTX2 were recently shown to be responsible for ocular as well as pituitary abnormalities. Here, we describe a patient with unilateral anophthalmia and short stature. Endocrine evaluation of the hypothalamic–pituitary axis revealed isolated growth hormone deficiency (IGHD) with small anterior pituitary gland, invisible stalk, ectopic posterior lobe, and right anophthalmia on brain magnetic resonance imaging. DNA was analyzed for mutations in the HESX1, SOX2, and OTX2 genes. Molecular analysis yielded a novel heterozygous OTX2 mutation (c.270A>T, p.R90S) within the homeodomain. Functional analysis revealed that the mutation inhibited both the DNA binding and transactivation activities of the protein. This novel loss-of-function mutation is associated with anophthalmia and IGHD in a patient of Sephardic Jewish descent. We recommend that patients with GH deficiency and ocular malformation in whom genetic analysis for classic transcription factor genes (PROP1, POU1F1, HESX1, and LHX4) failed to identify alterations should be checked for the presence of mutations in the OTX2 gene. More... »

PAGES

721-729

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-010-0820-9

DOI

http://dx.doi.org/10.1007/s00439-010-0820-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017677870

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20396904


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