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Sökning: onr:"swepub:oai:DiVA.org:uu-359265" > Clinical Characteri...

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Gkourogianni, Alexandra (författare)
Karolinska Inst & Karolinska Univ Hosp, Div Pediat Endocrinol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden,Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Stocholm, Sweden; Karolinska University Hospital, Stockholm, Sweden
Andrew, Melissa (författare)
Cincinnati Childrens Hosp Med Ctr, Div Endocrinol, Cincinnati Ctr Growth Disorders, Cincinnati, OH 70941 USA,Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA
Tyzinski, Leah (författare)
Cincinnati Childrens Hosp Med Ctr, Div Endocrinol, Cincinnati Ctr Growth Disorders, Cincinnati, OH 70941 USA,Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA
visa fler...
Crocker, Melissa (författare)
Boston Childrens Hosp, Endocrinol, Boston, MA USA,Division of Endocrinology, Boston Children's Hospital, Boston MA, USA
Douglas, Jessica (författare)
Boston Childrens Hosp, Boston, MA 02115 USA,Division of Genetics, Boston Children's Hospital, Boston MA, USA
Dunbar, Nancy (författare)
Div Pediat Endocrinol, Connecticut Childrens Med Ctr, Hartford, CT 06106 USA,Division of Pediatric Endocrinology, Connecticut Children's Medical Center, Hartford CT, USA
Fairchild, Jan (författare)
Charles Univ Prague & Univ Hosp Motol, Second Fac Med, Dept Pediat, Prague 11636, Czech Republic. Phoenix Childrens Hosp, Divis Endocrinol, Phoenix, AZ 85016 USA;Womens & Childrens Hosp, Dept Endocrinol & Diabet, South Australia 5006, Australia,Department of Endocrinology and Diabetes, Women's and Children's Hospital, Adelaide, Australia
Funari, Mariana F. A. (författare)
Univ S ao Paulo, Unidade Endocrinologia Desenvolvimento LIM 42, Disciplina Endocrinologia, Faculdade Medicina, BR-05508020 Sao Paulo, Brazil,Unidade de Endocrinologia do Desenvolvimento (LIM/42), Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo (USP), Sao Paulo, Brazil
Heath, Karen E. (författare)
Univ Auto noma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM & Skeletal Dysplasia, IdiPAZ, Madrid 20849, Spain,Institute of Medical & Molecular Genetics (INGEMM) and Skeletal dysplasia Multidisciplinary Unit (UMDE), Hospital La Paz Institute for Health Research (IdiPAZ), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Department of Pediatrics, Hospital Universitario Infanta Sofia, Madrid, Spain
Jorge, Alexander A. L. (författare)
Univ S ao Paulo, Unidade Endocrinologia Desenvolvimento LIM 42, Disciplina Endocrinologia, Faculdade Medicina, BR-05508020 Sao Paulo, Brazil,Unidade de Endocrinologia do Desenvolvimento (LIM/42), Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo (USP), Sao Paulo, Brazil
Kurtzman, Tracey (författare)
El Rio Community Hlth Ctr, Tucson, AZ 85745 USA,El Rio Community Health Center, Tucson AZ, USA
LaFranchi, Stephen (författare)
Charles Univ Prague & Univ Hosp Motol, Second Fac Med, Dept Pediat, Prague 11636, Czech Republic. Phoenix Childrens Hosp, Divis Endocrinol, Phoenix, AZ 85016 USA,Department of Pediatrics, Oregon Health and Science University, Portland OR, USA
Lalani, Seema (författare)
Molecular & Human Genet, Dublin, Ireland,Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, USA
Lebl, Jan (författare)
Department of Pediatrics, 2nd Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czech Republic
Lin, Yuezhen (författare)
Baylor Coll Med, Pediatr Endocrinol & Metab, Houston, TX 77030 USA,Pediatric Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA
Los, Evan (författare)
Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97239 USA,Department of Pediatrics, Oregon Health and Science University, Portland OR, USA
Newbern, Dorothee (författare)
Division of Endocrinology, Phoenix Children's Hospital, Phoenix AZ, USA
Nowak, Catherine (författare)
Boston Childrens Hosp, Boston, MA 02115 USA,Division of Genetics, Boston Children's Hospital, Boston MA, USA
Olson, Micah (författare)
Division of Endocrinology, Phoenix Children's Hospital, Phoenix AZ, USA
Popovic, Jadranka (författare)
Univ Pittsburgh Med Ctr, Childrens Hosp Pittsburgh, Pittsburgh, PA 15237 USA,Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh PA, USA
pruhova, Stepanka (författare)
Elblova, Lenka (författare)
Charles Univ Prague & Univ Hosp Motol, Second Fac Med, Dept Pediat, Prague 11636, Czech Republic. Phoenix Childrens Hosp, Divis Endocrinol, Phoenix, AZ 85016 USA,Department of Pediatrics, 2nd FacultDepartment of Pediatrics, 2nd Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czech Republic
Quintos, Jose Bernardo (författare)
Childrens Hosp, Providence, RI 02903 USA,Hasbro Children's Hospital, Providence RI, USA
Segerlund, Emma (författare)
Karolinska Inst & Karolinska Univ Hosp, Div Pediat Endocrinol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden;Sunderby Hosp, S-95442 Sunderby, Sweden,Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Sunderby Hospital, Sunderbyn, Sweden
Sentchordi, Lucia (författare)
Hosp Univ Infanta Sofia, Dept Pediat, Madrid 28703, Spain;Univ Auto noma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM & Skeletal Dysplasia, IdiPAZ, Madrid 20849, Spain,Institute of Medical & Molecular Genetics (INGEMM) and Skeletal dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, (IdiPAZ), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Department of Pediatrics, Hospital Universitario Infanta Sofia, Madrid, Spain
Shinawi, Marwan (författare)
Washington Univ, Divis Genet, St Louis, MO 63130 USA,Division of Genetics, Washington University, St. Louis MO, USA
Stattin, Evalena (författare)
Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
Swartz, Jonathan (författare)
Boston Childrens Hosp, Endocrinol, Boston, MA USA,Division of Endocrinology, Boston Children's Hospital, Boston MA, USA
Gonzalez del Angel, Ariadna (författare)
Inst Nacl Pediat, Dept Gene tica Humana, Lab Biolog Mol Insurgentes Cuicuilco, Insurgentes Cuicuilco, Mexico City 04530, DF, Mexico
Cuellar, Sinhue Diaz (författare)
Inst Nacl Pediat, Dept Gene tica Humana, Lab Biolog Mol Insurgentes Cuicuilco, Insurgentes Cuicuilco, Mexico City 04530, DF, Mexico
Hosono, Hidekazu (författare)
Childrens Med Ctr, Santa Barbara, CA 93111 USA,Cottage Children's Medical Center, Santa Barbara CA, USA
Sanchez-Lara, Pedro A. (författare)
Childrens Hosp Angeles, Ctr Personalized Med, Los Angeles, CA 90027 USA,Center for Personalized Medicine, Children's Hospital of Los Angeles, Los Angeles CA, USA
Hwa, Vivian (författare)
Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA
Baron, Jeffrey (författare)
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Natl Inst Hlth, Sect Growth & Dev, Bethesda, MD 20892 USA,Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda MD, USA
Nilsson, Ola (författare)
Örebro universitet,Institutionen för medicinska vetenskaper,Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Karolinska University Hospital, Stockholm, Sweden; Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda MD, USA; Örebro University Hospital, Örebro, Sweden,Ola Nilsson
Dauber, Andrew (författare)
Cincinnati Childrens Hosp Med Ctr, Div Endocrinol, Cincinnati Ctr Growth Disorders, Cincinnati, OH 70941 USA;Orebro Univ & Univ Hosp, Department ofMed Sci, S-70185 Orebro, Sweden,Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA
Sinhué, Díaz-Cuéllar (författare)
Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes-Cuicuilco, Coyoacán, México
Ariadna, González-Del Angel (författare)
Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Mexico City, México
Průhová, Štěpánka (författare)
Department of Pediatrics, 2nd Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czech Republic
Stattin, Eva-Lena (författare)
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Andrew, M (författare)
Lebl, J (författare)
Stattin, EL (författare)
Fairchild, J (författare)
Newbern, D (författare)
Sentchordi, L (författare)
Cuellar, SD (författare)
Olson, M (författare)
Hosono, H (författare)
Los, E (författare)
Lin, YZ (författare)
Popovic, J (författare)
Heath, KE (författare)
Dauber, A (författare)
Kurtzman, T (författare)
Dunbar, N (författare)
Swartz, J (författare)
Douglas, J (författare)
Nowak, C (författare)
Sanchez-Lara, PA (författare)
Shinawi, M (författare)
del Angel, AG (författare)
Funari, MFA (författare)
Jorge, AAL (författare)
Segerlund, E (författare)
Hwa, V (författare)
Tyzinski, L (författare)
Crocker, M (författare)
Pruhova, S (författare)
Gkourogianni, A (författare)
Baron, J (författare)
Nilsson, O (författare)
Karolinska Institutet
Quintos, JB (författare)
Elblova, L (författare)
LaFranchi, S (författare)
Lalani, S (författare)
visa färre...
 (creator_code:org_t)
Cary, USA : OXFORD UNIV PRESS INC, 2017
2017
Engelska.
Ingår i: ; 102:2, s. 460-469
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation. Objective: We sought to characterize the phenotypic spectrum and response to growth-promoting therapies. Patients and Methods: One hundred three individuals (57 females, 46 males) from 20 families with autosomal dominant short stature and heterozygous ACAN mutations were identified and confirmed using whole-exome sequencing, targeted next-generation sequencing, and/or Sanger sequencing. Clinical information was collected from the medical records. Results: Identified ACAN variants showed perfect cosegregation with phenotype. Adult individuals had mildly disproportionate short stature [median height, -2.8 standard deviation score (SDS); range, -5.9 to -0.9] and a history of early growth cessation. The condition was frequently associated with early-onset osteoarthritis (12 families) and intervertebral disc disease (9 families). No apparent genotype-phenotype correlation was found between the type of ACAN mutation and the presence of joint complaints. Childhood height was less affected (median height, -2.0 SDS; range, -4.2 to -0.6). Most children with ACAN mutations had advanced bone age (bone age - chronologic age; median, + 1.3 years; range, + 0.0 to + 3.7 years). Nineteen individuals had received growth hormone therapy with some evidence of increased growth velocity. Conclusions: Heterozygous ACAN mutations result in a phenotypic spectrum ranging from mild and proportionate short stature to a mild skeletal dysplasia with disproportionate short stature and brachydactyly. Many affected individuals developed early-onset osteoarthritis and degenerative disc disease, suggesting dysfunction of the articular cartilage and intervertebral disc cartilage. Additional studies are needed to determine the optimal treatment strategy for these patients.

Ämnesord

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

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