title: WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
abstract: 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.
authors.affiliation: Institut de Génétique Médicale et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.|Pham Ngoc Thach Medical University, Ho Chi Minh city, Vietnam.|Service d'Histologie Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, SiteAntoine Béclère, APHP, Clamart, France.
authors.forename: Minh Tuan
authors.identifier: http://orcid.org/0000-0002-9183-7345
authors.initials: MT
authors.lastname: Huynh
authors.affiliation: Institut de Génétique Médicale et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.
authors.forename: Elise
authors.initials: E
authors.lastname: Boudry-Labis
authors.affiliation: Centre de Cytogénétique, Hôpital Saint Vincent de Paul, Lille, France.
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Duban
authors.affiliation: Institut de Génétique Médicale et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.affiliation: Pham Ngoc Thach Medical University, Ho Chi Minh city, Vietnam.
authors.forename: Cong Toai
authors.initials: CT
authors.lastname: Tran
authors.affiliation: Institut de Génétique Médicale et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.
authors.forename: Heidi
authors.initials: H
authors.lastname: Tampere
authors.affiliation: Institut de Génétique Médicale et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Ceraso
authors.affiliation: Service de Génétique Clinique Guy Fontaine et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier
authors.affiliation: Service d'Histologie Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, SiteAntoine Béclère, APHP, Clamart, France.
authors.forename: Gérard
authors.initials: G
authors.lastname: Tachdjian
authors.affiliation: Institut de Génétique Médicale et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Roche-Lestienne
authors.affiliation: Service de Génétique Clinique Guy Fontaine et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Vincent-Delorme
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D003409:Congenital Hypothyroidism / Q000235:genetics* / Q000503:physiopathology; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D000071841:PAX6 Transcription Factor / Q000235:genetics; D010641:Phenotype; D050033:Thyroid Dysgenesis / Q000235:genetics* / Q000503:physiopathology; D017624:WAGR Syndrome / Q000235:genetics* / Q000503:physiopathology; D025721:WT1 Proteins / Q000235:genetics
chemical_list: C106894:FOXE1 protein, human; D051858:Forkhead Transcription Factors; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D025721:WT1 Proteins; C583751:WT1 protein, human
keywords: WAGR syndrome; congenital hypothyroidism; mosaic 11p13 deletion; thyroid ectopia