LymphedemaV1, PubMed, Corpus, bibRecord, 000179

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Identifieur interne : 000179 ( PubMed/Corpus ); précédent : 000178; suivant : 000180

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Auteurs : Gabriela E. Jones ; Anna K. Richmond ; Osric Navti ; Hatem A. Mousa ; Stephen Abbs ; Edward Thompson ; Sahar Mansour ; Pradeep C. Vasudevan

Source :

American journal of medical genetics. Part A [ 1552-4833 ] ; 2017.

RBID : pubmed:28544699

Abstract

Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis. A further child with LDS had prominence of the left renal pelvis on postnatal renal ultrasound. We also describe a second family in whom the proband and his affected son had congenital renal anomalies; left ectopic kidney, right duplex kidney, and bilateral duplex collecting systems with partial duplex kidney with mild degree of malrotation, respectively. Foxc2 is expressed in the developing kidney and therefore congenital renal anomalies may well be associated, potentially as a low penetrance feature. We propose that all individuals diagnosed with LDS should have a baseline renal ultrasound scan at diagnosis. It would also be important to consider the possibility of renal anomalies during prenatal ultrasound of at risk pregnancies, and that the presence of hydronephrosis may be an indication that the baby is affected with LDS.

DOI: 10.1002/ajmg.a.38293
PubMed: 28544699

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<author><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name>
<affiliation><nlm:affiliation>Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.</nlm:affiliation>
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<author><name sortKey="Richmond, Anna K" sort="Richmond, Anna K" uniqKey="Richmond A" first="Anna K" last="Richmond">Anna K. Richmond</name>
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<author><name sortKey="Navti, Osric" sort="Navti, Osric" uniqKey="Navti O" first="Osric" last="Navti">Osric Navti</name>
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<author><name sortKey="Thompson, Edward" sort="Thompson, Edward" uniqKey="Thompson E" first="Edward" last="Thompson">Edward Thompson</name>
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<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
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<author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name>
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<front><div type="abstract" xml:lang="en">Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis. A further child with LDS had prominence of the left renal pelvis on postnatal renal ultrasound. We also describe a second family in whom the proband and his affected son had congenital renal anomalies; left ectopic kidney, right duplex kidney, and bilateral duplex collecting systems with partial duplex kidney with mild degree of malrotation, respectively. Foxc2 is expressed in the developing kidney and therefore congenital renal anomalies may well be associated, potentially as a low penetrance feature. We propose that all individuals diagnosed with LDS should have a baseline renal ultrasound scan at diagnosis. It would also be important to consider the possibility of renal anomalies during prenatal ultrasound of at risk pregnancies, and that the presence of hydronephrosis may be an indication that the baby is affected with LDS.</div>
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<Abstract><AbstractText>Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis. A further child with LDS had prominence of the left renal pelvis on postnatal renal ultrasound. We also describe a second family in whom the proband and his affected son had congenital renal anomalies; left ectopic kidney, right duplex kidney, and bilateral duplex collecting systems with partial duplex kidney with mild degree of malrotation, respectively. Foxc2 is expressed in the developing kidney and therefore congenital renal anomalies may well be associated, potentially as a low penetrance feature. We propose that all individuals diagnosed with LDS should have a baseline renal ultrasound scan at diagnosis. It would also be important to consider the possibility of renal anomalies during prenatal ultrasound of at risk pregnancies, and that the presence of hydronephrosis may be an indication that the baby is affected with LDS.</AbstractText>
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Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

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