Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Identifieur interne : 003003 ( Main/Exploration ); précédent : 003002; suivant : 003004Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Auteurs : A. Haghighi [États-Unis] ; Z. Kavehmanesh [Iran] ; A. Haghighi [Canada] ; F. Salehzadeh [Iran] ; F. Santos-Simarro [Espagne] ; L. Van Maldergem [France] ; L. Cimbalistiene [Lituanie] ; F. Collins [Australie] ; M. Chopra [Australie] ; S. Al-Sinani [Oman] ; S. Dastmalchian [États-Unis] ; D C De Silva [Sri Lanka] ; H. Bakhti [Iran] ; A. Garg [États-Unis] ; P. Hilbert [Belgique]Source :
- Clinical genetics [ 1399-0004 ] ; 2015.
Abstract
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present early in life in CGL patients. Our aim was to investigate 10 CGL patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing variants in AGPAT2 (five patients) and in BSCL2 (five patients), including three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2. We also report possible novel clinical features such as anemia, breast enlargement, steatorrhea, intraventricular hemorrhage and nephrolithiasis in CGL patients. Generalized lipodystrophy and muscular hypertrophy were the only features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling in families at-risk.
DOI: 10.1111/cge.12623
PubMed: 26072926
Affiliations:
- Australie, Belgique, Canada, Espagne, France, Iran, Lituanie, Oman, Sri Lanka, États-Unis
- Bourgogne-Franche-Comté, Communauté de Madrid, Franche-Comté, Massachusetts, Nouvelle-Galles du Sud, Ohio, Ontario, Texas
- Besançon, Madrid, Sydney, Toronto
- Université de Franche-Comté, Université de Toronto
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Haghighi</name><affiliation wicri:level="2"><nlm:affiliation>Department of Genetics, Harvard Medical School, Boston, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Harvard Medical School, Boston, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Kavehmanesh, Z" sort="Kavehmanesh, Z" uniqKey="Kavehmanesh Z" first="Z" last="Kavehmanesh">Z. Kavehmanesh</name><affiliation wicri:level="1"><nlm:affiliation>Research Center for Gastroenterology and Liver Diseases, Baqiyatallah University of Medical Sciences, Tehran, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Research Center for Gastroenterology and Liver Diseases, Baqiyatallah University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Haghighi, A" sort="Haghighi, A" uniqKey="Haghighi A" first="A" last="Haghighi">A. Haghighi</name><affiliation wicri:level="4"><nlm:affiliation>Toronto General Hospital, University of Toronto, Toronto, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto General Hospital, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Salehzadeh, F" sort="Salehzadeh, F" uniqKey="Salehzadeh F" first="F" last="Salehzadeh">F. Salehzadeh</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Department, Bouali Hospital, Ardabil University of Medical Sciences, Ardabil, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Pediatric Department, Bouali Hospital, Ardabil University of Medical Sciences, Ardabil</wicri:regionArea><wicri:noRegion>Ardabil</wicri:noRegion></affiliation></author><author><name sortKey="Santos Simarro, F" sort="Santos Simarro, F" uniqKey="Santos Simarro F" first="F" last="Santos-Simarro">F. Santos-Simarro</name><affiliation wicri:level="3"><nlm:affiliation>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name><affiliation wicri:level="4"><nlm:affiliation>Centre de génétique humaine, Université de FRanche-Comté, Besançon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de génétique humaine, Université de FRanche-Comté, Besançon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Franche-Comté</region><settlement type="city">Besançon</settlement><settlement type="city" wicri:auto="siege">Besançon</settlement></placeName><orgName type="university">Université de Franche-Comté</orgName></affiliation></author><author><name sortKey="Cimbalistiene, L" sort="Cimbalistiene, L" uniqKey="Cimbalistiene L" first="L" last="Cimbalistiene">L. Cimbalistiene</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.</nlm:affiliation><country xml:lang="fr">Lituanie</country><wicri:regionArea>Department of Human and Medical Genetics, Vilnius University, Vilnius</wicri:regionArea><wicri:noRegion>Vilnius</wicri:noRegion></affiliation></author><author><name sortKey="Collins, F" sort="Collins, F" uniqKey="Collins F" first="F" last="Collins">F. Collins</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, Children's Hospital at Westmead, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Chopra, M" sort="Chopra, M" uniqKey="Chopra M" first="M" last="Chopra">M. Chopra</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Al Sinani, S" sort="Al Sinani, S" uniqKey="Al Sinani S" first="S" last="Al-Sinani">S. Al-Sinani</name><affiliation wicri:level="1"><nlm:affiliation>Gastroenterology Unit, Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.</nlm:affiliation><country xml:lang="fr">Oman</country><wicri:regionArea>Gastroenterology Unit, Department of Child Health, Sultan Qaboos University Hospital, Muscat</wicri:regionArea><wicri:noRegion>Muscat</wicri:noRegion></affiliation></author><author><name sortKey="Dastmalchian, S" sort="Dastmalchian, S" uniqKey="Dastmalchian S" first="S" last="Dastmalchian">S. Dastmalchian</name><affiliation wicri:level="2"><nlm:affiliation>Case Medical Center, Case Western Reserve University, Cleveland, OH, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Case Medical Center, Case Western Reserve University, Cleveland, OH</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="De Silva, D C" sort="De Silva, D C" uniqKey="De Silva D" first="D C" last="De Silva">D C De Silva</name><affiliation wicri:level="1"><nlm:affiliation>Department of Physiology, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka.</nlm:affiliation><country xml:lang="fr">Sri Lanka</country><wicri:regionArea>Department of Physiology, Faculty of Medicine, University of Kelaniya, Ragama</wicri:regionArea><wicri:noRegion>Ragama</wicri:noRegion></affiliation></author><author><name sortKey="Bakhti, H" sort="Bakhti, H" uniqKey="Bakhti H" first="H" last="Bakhti">H. Bakhti</name><affiliation wicri:level="1"><nlm:affiliation>Pathology Department, Takht-e Jamshid Hospital, Karaj, Iran.</nlm:affiliation><country xml:lang="fr">Iran</country><wicri:regionArea>Pathology Department, Takht-e Jamshid Hospital, Karaj</wicri:regionArea><wicri:noRegion>Karaj</wicri:noRegion></affiliation></author><author><name sortKey="Garg, A" sort="Garg, A" uniqKey="Garg A" first="A" last="Garg">A. Garg</name><affiliation wicri:level="2"><nlm:affiliation>Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Hilbert, P" sort="Hilbert, P" uniqKey="Hilbert P" first="P" last="Hilbert">P. Hilbert</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Pathology and Genetics, Gosselies, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institute of Pathology and Genetics, Gosselies</wicri:regionArea><wicri:noRegion>Gosselies</wicri:noRegion></affiliation></author></analytic><series><title level="j">Clinical genetics</title><idno type="eISSN">1399-0004</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present early in life in CGL patients. Our aim was to investigate 10 CGL patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing variants in AGPAT2 (five patients) and in BSCL2 (five patients), including three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2. We also report possible novel clinical features such as anemia, breast enlargement, steatorrhea, intraventricular hemorrhage and nephrolithiasis in CGL patients. Generalized lipodystrophy and muscular hypertrophy were the only features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling in families at-risk.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>Canada</li><li>Espagne</li><li>France</li><li>Iran</li><li>Lituanie</li><li>Oman</li><li>Sri Lanka</li><li>États-Unis</li></country><region><li>Bourgogne-Franche-Comté</li><li>Communauté de Madrid</li><li>Franche-Comté</li><li>Massachusetts</li><li>Nouvelle-Galles du Sud</li><li>Ohio</li><li>Ontario</li><li>Texas</li></region><settlement><li>Besançon</li><li>Madrid</li><li>Sydney</li><li>Toronto</li></settlement><orgName><li>Université de Franche-Comté</li><li>Université de Toronto</li></orgName></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Haghighi, A" sort="Haghighi, A" uniqKey="Haghighi A" first="A" last="Haghighi">A. Haghighi</name></region><name sortKey="Dastmalchian, S" sort="Dastmalchian, S" uniqKey="Dastmalchian S" first="S" last="Dastmalchian">S. Dastmalchian</name><name sortKey="Garg, A" sort="Garg, A" uniqKey="Garg A" first="A" last="Garg">A. Garg</name></country><country name="Iran"><noRegion><name sortKey="Kavehmanesh, Z" sort="Kavehmanesh, Z" uniqKey="Kavehmanesh Z" first="Z" last="Kavehmanesh">Z. Kavehmanesh</name></noRegion><name sortKey="Bakhti, H" sort="Bakhti, H" uniqKey="Bakhti H" first="H" last="Bakhti">H. Bakhti</name><name sortKey="Salehzadeh, F" sort="Salehzadeh, F" uniqKey="Salehzadeh F" first="F" last="Salehzadeh">F. Salehzadeh</name></country><country name="Canada"><region name="Ontario"><name sortKey="Haghighi, A" sort="Haghighi, A" uniqKey="Haghighi A" first="A" last="Haghighi">A. Haghighi</name></region></country><country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Santos Simarro, F" sort="Santos Simarro, F" uniqKey="Santos Simarro F" first="F" last="Santos-Simarro">F. Santos-Simarro</name></region></country><country name="France"><region name="Bourgogne-Franche-Comté"><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name></region></country><country name="Lituanie"><noRegion><name sortKey="Cimbalistiene, L" sort="Cimbalistiene, L" uniqKey="Cimbalistiene L" first="L" last="Cimbalistiene">L. Cimbalistiene</name></noRegion></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Collins, F" sort="Collins, F" uniqKey="Collins F" first="F" last="Collins">F. Collins</name></region><name sortKey="Chopra, M" sort="Chopra, M" uniqKey="Chopra M" first="M" last="Chopra">M. Chopra</name></country><country name="Oman"><noRegion><name sortKey="Al Sinani, S" sort="Al Sinani, S" uniqKey="Al Sinani S" first="S" last="Al-Sinani">S. Al-Sinani</name></noRegion></country><country name="Sri Lanka"><noRegion><name sortKey="De Silva, D C" sort="De Silva, D C" uniqKey="De Silva D" first="D C" last="De Silva">D C De Silva</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Hilbert, P" sort="Hilbert, P" uniqKey="Hilbert P" first="P" last="Hilbert">P. Hilbert</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|étape= Exploration
|type= RBID
|clé= pubmed:26072926
|texte= Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:26072926" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |