Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

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Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

Gkourogianni, Alexandra (författare): Karolinska Institutet

Andrew, Melissa (författare): Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA,Cincinnati Childrens Hosp Med Ctr, Div Endocrinol, Cincinnati Ctr Growth Disorders, Cincinnati, OH 70941 USA

Tyzinski, Leah (författare): Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA,Cincinnati Childrens Hosp Med Ctr, Div Endocrinol, Cincinnati Ctr Growth Disorders, Cincinnati, OH 70941 USA

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Crocker, Melissa (författare): Division of Endocrinology, Boston Children's Hospital, Boston MA, USA,Boston Childrens Hosp, Endocrinol, Boston, MA USA

Douglas, Jessica (författare): Division of Genetics, Boston Children's Hospital, Boston MA, USA,Boston Childrens Hosp, Boston, MA 02115 USA

Dunbar, Nancy (författare): Division of Pediatric Endocrinology, Connecticut Children's Medical Center, Hartford CT, USA,Div Pediat Endocrinol, Connecticut Childrens Med Ctr, Hartford, CT 06106 USA

Fairchild, Jan (författare): Department of Endocrinology and Diabetes, Women's and Children's Hospital, Adelaide, Australia,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

Funari, Mariana F. A. (författare): Unidade de Endocrinologia do Desenvolvimento (LIM/42), Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo (USP), Sao Paulo, Brazil,Univ S ao Paulo, Unidade Endocrinologia Desenvolvimento LIM 42, Disciplina Endocrinologia, Faculdade Medicina, BR-05508020 Sao Paulo, Brazil

Heath, Karen E. (författare): 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,Univ Auto noma Madrid, Hosp Univ Paz, Inst Med & Mol Genet INGEMM & Skeletal Dysplasia, IdiPAZ, Madrid 20849, Spain

Jorge, Alexander A. L. (författare): Unidade de Endocrinologia do Desenvolvimento (LIM/42), Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo (USP), Sao Paulo, Brazil,Univ S ao Paulo, Unidade Endocrinologia Desenvolvimento LIM 42, Disciplina Endocrinologia, Faculdade Medicina, BR-05508020 Sao Paulo, Brazil

Kurtzman, Tracey (författare): El Rio Community Health Center, Tucson AZ, USA,El Rio Community Hlth Ctr, Tucson, AZ 85745 USA

LaFranchi, Stephen (författare): Department of Pediatrics, Oregon Health and Science University, Portland OR, USA,Charles Univ Prague & Univ Hosp Motol, Second Fac Med, Dept Pediat, Prague 11636, Czech Republic. Phoenix Childrens Hosp, Divis Endocrinol, Phoenix, AZ 85016 USA

Lalani, Seema (författare): Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, USA,Molecular & Human Genet, Dublin, Ireland

Lebl, Jan (författare): Department of Pediatrics, 2nd Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czech Republic

Lin, Yuezhen (författare): Pediatric Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA,Baylor Coll Med, Pediatr Endocrinol & Metab, Houston, TX 77030 USA

Los, Evan (författare): Department of Pediatrics, Oregon Health and Science University, Portland OR, USA,Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97239 USA

Newbern, Dorothee (författare): Division of Endocrinology, Phoenix Children's Hospital, Phoenix AZ, USA

Nowak, Catherine (författare): Division of Genetics, Boston Children's Hospital, Boston MA, USA,Boston Childrens Hosp, Boston, MA 02115 USA

Olson, Micah (författare): Division of Endocrinology, Phoenix Children's Hospital, Phoenix AZ, USA

Popovic, Jadranka (författare): Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh PA, USA,Univ Pittsburgh Med Ctr, Childrens Hosp Pittsburgh, Pittsburgh, PA 15237 USA

Průhová, Štěpánka (författare): Department of Pediatrics, 2nd Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czech Republic

Elblova, Lenka (författare): Department of Pediatrics, 2nd FacultDepartment of Pediatrics, 2nd Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czech Republic,Charles Univ Prague & Univ Hosp Motol, Second Fac Med, Dept Pediat, Prague 11636, Czech Republic. Phoenix Childrens Hosp, Divis Endocrinol, Phoenix, AZ 85016 USA

Quintos, Jose Bernardo (författare): Hasbro Children's Hospital, Providence RI, USA,Childrens Hosp, Providence, RI 02903 USA

Segerlund, Emma (författare): Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Sunderby Hospital, Sunderbyn, Sweden,Karolinska Inst & Karolinska Univ Hosp, Div Pediat Endocrinol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden;Sunderby Hosp, S-95442 Sunderby, Sweden

Sentchordi, Lucia (författare): 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,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

Shinawi, Marwan (författare): Division of Genetics, Washington University, St. Louis MO, USA,Washington Univ, Divis Genet, St Louis, MO 63130 USA

Stattin, Eva-Lena (författare): Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden

Swartz, Jonathan (författare): Division of Endocrinology, Boston Children's Hospital, Boston MA, USA,Boston Childrens Hosp, Endocrinol, Boston, MA USA

Ariadna, González-Del Angel (författare): Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Mexico City, México,Inst Nacl Pediat, Dept Gene tica Humana, Lab Biolog Mol Insurgentes Cuicuilco, Insurgentes Cuicuilco, Mexico City 04530, DF, Mexico

Sinhué, Díaz-Cuéllar (författare): Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes-Cuicuilco, Coyoacán, México,Inst Nacl Pediat, Dept Gene tica Humana, Lab Biolog Mol Insurgentes Cuicuilco, Insurgentes Cuicuilco, Mexico City 04530, DF, Mexico

Hosono, Hidekazu (författare): Cottage Children's Medical Center, Santa Barbara CA, USA,Childrens Med Ctr, Santa Barbara, CA 93111 USA

Sanchez-Lara, Pedro A. (författare): Center for Personalized Medicine, Children's Hospital of Los Angeles, Los Angeles CA, USA,Childrens Hosp Angeles, Ctr Personalized Med, Los Angeles, CA 90027 USA

Hwa, Vivian (författare): Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA

Baron, Jeffrey (författare): Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda MD, USA,Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Natl Inst Hlth, Sect Growth & Dev, Bethesda, MD 20892 USA

Nilsson, Ola, 1970- (författare): Karolinska Institutet,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,Karolinska Inst & Karolinska Univ Hosp, Div Pediat Endocrinol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden;Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Natl Inst Hlth, Sect Growth & Dev, Bethesda, MD 20892 USA

Dauber, Andrew (författare): Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA,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

Stattin, Evalena (författare): Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab

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(creator_code:org_t)

2016-11-21
2017
Engelska.
Ingår i: Journal of Clinical Endocrinology and Metabolism. - Cary, USA : Oxford University Press. - 0021-972X .- 1945-7197. ; 102:2, s. 460-469

Relaterad länk:: https://academic.oup...; visa fler...; https://urn.kb.se/re...; https://doi.org/10.1...; https://urn.kb.se/re...; http://kipublication...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

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Context: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, premature growth cessation and minor skeletal abnormalities.Objective: Characterize the phenotypic spectrum, associated conditions and response to growth-promoting therapies.Design: Retrospective international cohort study.Patients: Information from 103 individuals (57 female, 46 male) from 20 families with confirmed heterozygous ACAN mutations were included.Methods: 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 medical records.Results: Identified ACAN variants showed perfect co-segregation with phenotype. Adult individuals had mildly disproportionate short stature (median height: -2.8 SDS, range: -5.9 to -0.9) and histories of early growth cessation. The condition was frequently associated with early-onset osteoarthritis (12 families) and intervertebral disc disease (9 families). There was no apparent genotype-phenotype correlation between type of ACAN mutation and presence of joint complaints. During childhood, height was less affected (median height: -2.0 SDS, range: -4.2 to -0.6). In contrast to most children with short stature, the majority of children had advanced BA (BA - CA, median: +1.3y; range +0.0 to +3.7y) reflecting a reduction in remaining growth potential. Nineteen individuals had received GH 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. In several of the families, affected individuals developed early-onset osteoarthritis and degenerative disc disease requiring intervention, suggesting dysfunction of articular cartilage and intervertebral disc cartilage. Additional studies are needed to determine the optimal treatment strategy for these patients.

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Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

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