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WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion
Author(s) -
Huynh Minh Tuan,
BoudryLabis Elise,
Duban Bénédicte,
Andrieux Joris,
Tran Cong Toai,
Tampere Heidi,
Ceraso Delphine,
Manouvrier Sylvie,
Tachdjian Gérard,
RocheLestienne Catherine,
VincentDelorme Catherine
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38206
Subject(s) - aniridia , thyroid , dysgenesis , pax6 , congenital hypothyroidism , medicine , chromosome , genetics , pediatrics , biology , endocrinology , gene , transcription factor
Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1 . We report novel findings in a 28‐month‐old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5.28 Mb interstitial deletion of chromosome 11p13 deleting PAX6 and WT1 . In order to clarify the mechanism underlying his thyroid dysgenesis, sequence analysis of candidate thyroid developmental genes was performed. We identified a FOXE1 : c.532_537delGCCGCC p.(Ala178_Ala179del) variant that predisposes to thyroid ectopia. Taken together, this is the first report of mosaic 11p13 deletion in association with thyroid dysgenesis. We also propose a model of complex interactions of different genetic variants for this particular phenotype in the present patient.