LymphedemaV1, Ncbi, Checkpoint, bibRecord, 004B67

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation

Identifieur interne : 004B67 ( Ncbi/Checkpoint ); précédent : 004B66; suivant : 004B68

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation

Auteurs : Matthew G. Butler [États-Unis] ; Susan L. Dagenais [États-Unis] ; José L. Garcia-Perez [États-Unis, Espagne] ; Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique] ; Peter Strouse [États-Unis] ; Jeffrey W. Innis [États-Unis] ; Thomas W. Glover [États-Unis]

Source :

American Journal of Medical Genetics. Part a [ 1552-4825 ] ; 2012.

RBID : PMC:3314153

Descripteurs français

English descriptors

KwdEn :
- Adaptor Proteins, Signal Transducing (genetics), Child, Chromosome Mapping, Chromosomes, Human, Pair 16 (genetics), DNA Copy Number Variations, Eyelashes (abnormalities), Female, Forkhead Transcription Factors (genetics), Gene Deletion, Genotype, Glomus Tumor (genetics), Humans, Intellectual Disability (genetics), Lymphedema (genetics), Magnetic Resonance Imaging, Microcephaly (genetics), Paraganglioma, Extra-Adrenal (genetics), Receptor, TIE-2 (genetics), Vesico-Ureteral Reflux (genetics).
MESH :
- chemical , genetics : Adaptor Proteins, Signal Transducing, Forkhead Transcription Factors, Receptor, TIE-2.
- abnormalities : Eyelashes.
- genetics : Chromosomes, Human, Pair 16, Glomus Tumor, Intellectual Disability, Lymphedema, Microcephaly, Paraganglioma, Extra-Adrenal, Vesico-Ureteral Reflux.
- Child, Chromosome Mapping, DNA Copy Number Variations, Female, Gene Deletion, Genotype, Humans, Magnetic Resonance Imaging.

Abstract

Two hereditary syndromes, lymphedema-distichiasis syndrome (LD) 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. Distichiasis was present in three generations of the proband’s maternal side of the family. The glomuvenous malformations 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 glomuvenous malformations; 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314153

DOI: 10.1002/ajmg.a.35229
PubMed: 22407726
PubMed Central: 3314153

Affiliations:

Links to Exploration step

PMC:3314153

Le document en format XML

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<author><name sortKey="Innis, Jeffrey W" sort="Innis, Jeffrey W" uniqKey="Innis J" first="Jeffrey W." last="Innis">Jeffrey W. Innis</name>
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<term>Child</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 16 (genetics)</term>
<term>DNA Copy Number Variations</term>
<term>Eyelashes (abnormalities)</term>
<term>Female</term>
<term>Forkhead Transcription Factors (genetics)</term>
<term>Gene Deletion</term>
<term>Genotype</term>
<term>Glomus Tumor (genetics)</term>
<term>Humans</term>
<term>Intellectual Disability (genetics)</term>
<term>Lymphedema (genetics)</term>
<term>Magnetic Resonance Imaging</term>
<term>Microcephaly (genetics)</term>
<term>Paraganglioma, Extra-Adrenal (genetics)</term>
<term>Receptor, TIE-2 (genetics)</term>
<term>Vesico-Ureteral Reflux (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Cartographie chromosomique</term>
<term>Chromosomes humains de la paire 16 (génétique)</term>
<term>Cils (malformations)</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Délétion de gène</term>
<term>Enfant</term>
<term>Facteurs de transcription Forkhead (génétique)</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Lymphoedème (génétique)</term>
<term>Microcéphalie (génétique)</term>
<term>Paragangliome extrasurrénalien (génétique)</term>
<term>Protéines adaptatrices de la transduction du signal (génétique)</term>
<term>Reflux vésico-urétéral (génétique)</term>
<term>Récepteur TIE-2 (génétique)</term>
<term>Tumeur glomique (génétique)</term>
<term>Variations de nombre de copies de segment d'ADN</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term>
<term>Forkhead Transcription Factors</term>
<term>Receptor, TIE-2</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyelashes</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 16</term>
<term>Glomus Tumor</term>
<term>Intellectual Disability</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
<term>Paraganglioma, Extra-Adrenal</term>
<term>Vesico-Ureteral Reflux</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 16</term>
<term>Déficience intellectuelle</term>
<term>Facteurs de transcription Forkhead</term>
<term>Lymphoedème</term>
<term>Microcéphalie</term>
<term>Paragangliome extrasurrénalien</term>
<term>Protéines adaptatrices de la transduction du signal</term>
<term>Reflux vésico-urétéral</term>
<term>Récepteur TIE-2</term>
<term>Tumeur glomique</term>
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<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Cils</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Chromosome Mapping</term>
<term>DNA Copy Number Variations</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Genotype</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Cartographie chromosomique</term>
<term>Délétion de gène</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Variations de nombre de copies de segment d'ADN</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Two hereditary syndromes, lymphedema-distichiasis syndrome (LD) 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 <italic>FOXC2</italic>
 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. Distichiasis was present in three generations of the proband’s maternal side of the family. The glomuvenous malformations were severe in the proband, and maternal family members exhibited lower extremity varicosities of variable degree. A <italic>GLMN</italic>
 (glomulin) gene mutation was identified in the proband that accounts for the observed glomuvenous malformations; no other family member could be tested. <italic>TIE2</italic>
 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 <italic>FOXC2</italic>
 locus, which was inherited from the proband’s mother. The deletion includes the <italic>C16ORF95</italic>
, <italic>FBXO31</italic>
, <italic>MAP1LC3B</italic>
, and <italic>ZCCHC14</italic>
 loci and 115 kb of a gene desert distal to <italic>FOXC2</italic>
 and <italic>FOXL1</italic>
. 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 <italic>cis</italic>
-regulatory elements of <italic>FOXC2</italic>
 expression.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Belgique</li>
<li>Espagne</li>
<li>États-Unis</li>
</country>
<region><li>Région de Bruxelles-Capitale</li>
</region>
<settlement><li>Bruxelles</li>
<li>Louvain-la-Neuve</li>
</settlement>
<orgName><li>Université catholique de Louvain</li>
</orgName>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G." last="Butler">Matthew G. Butler</name>
</noRegion>
<name sortKey="Dagenais, Susan L" sort="Dagenais, Susan L" uniqKey="Dagenais S" first="Susan L." last="Dagenais">Susan L. Dagenais</name>
<name sortKey="Garcia Perez, Jose L" sort="Garcia Perez, Jose L" uniqKey="Garcia Perez J" first="José L." last="Garcia-Perez">José L. Garcia-Perez</name>
<name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name>
<name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name>
<name sortKey="Innis, Jeffrey W" sort="Innis, Jeffrey W" uniqKey="Innis J" first="Jeffrey W." last="Innis">Jeffrey W. Innis</name>
<name sortKey="Innis, Jeffrey W" sort="Innis, Jeffrey W" uniqKey="Innis J" first="Jeffrey W." last="Innis">Jeffrey W. Innis</name>
<name sortKey="Strouse, Peter" sort="Strouse, Peter" uniqKey="Strouse P" first="Peter" last="Strouse">Peter Strouse</name>
</country>
<country name="Espagne"><noRegion><name sortKey="Garcia Perez, Jose L" sort="Garcia Perez, Jose L" uniqKey="Garcia Perez J" first="José L." last="Garcia-Perez">José L. Garcia-Perez</name>
</noRegion>
</country>
<country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name>
</region>
<name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
</country>
</tree>
</affiliations>
</record>

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Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation

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