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research
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation
Authors
Bell
Boon
+42 more
Brice
Brooks
Brouillard
Brouillard
Brouillard
Callen
Cann
Ciulla
Dagenais
Erickson
Erickson
Fang
Finegold
Gilbert
Gorlin
Hara
Hastings
He
Iida
Kaestner
Karolchik
Komatsu
Kumar
Lieber
Mellor
Morrish
Mulliken
Ng
Nobrega
Pressman
Rozen
Santra
Sherry
Shintani
Sholto-Douglas-Vernon
Stankiewicz
Vikkula
Wang
Wei
Wilke
Winnier
Wouters
Publication date
1 January 2012
Publisher
'Wiley'
Doi
Cite
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on
PubMed
Abstract
Two hereditary syndromes, lymphedema‐distichiasis (LD) syndrome and blepharo‐chelio‐dontic (BCD) syndrome include the aberrant growth of eyelashes from the meibomian glands, known as distichiasis. LD is an autosomal dominant syndrome primarily characterized by distichiasis and the onset of lymphedema usually during puberty. Mutations in the forkhead transcription factor FOXC2 are the only known cause of LD. BCD syndrome consists of autosomal dominant abnormalities of the eyelid, lip, and teeth, and the etiology remains unknown. In this report, we describe a proband that presented with distichiasis, microcephaly, bilateral grade IV vesicoureteral reflux requiring ureteral re‐implantation, mild intellectual impairment and apparent glomuvenous malformations (GVM). Distichiasis was present in three generations of the proband's maternal side of the family. The GVMs were severe in the proband, and maternal family members exhibited lower extremity varicosities of variable degree. A GLMN (glomulin) gene mutation was identified in the proband that accounts for the observed GVMs; no other family member could be tested. TIE2 sequencing revealed no mutations. In the proband, an additional submicroscopic 265 kb contiguous gene deletion was identified in 16q24.3, located 609 kb distal to the FOXC2 locus, which was inherited from the proband's mother. The deletion includes the C16ORF95 , FBXO31 , MAP1LC3B , and ZCCHC14 loci and 115 kb of a gene desert distal to FOXC2 and FOXL1 . Thus, it is likely that the microcephaly, distichiasis, vesicoureteral, and intellectual impairment in this family may be caused by the deletion of one or more of these genes and/or deletion of distant cis ‐regulatory elements of FOXC2 expression. © 2012 Wiley Periodicals, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90599/1/35229_ftp.pd
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Last time updated on 25/05/2012
DIAL UCLouvain
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Crossref
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info:doi/10.1002%2Fajmg.a.3522...
Last time updated on 01/04/2019