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Search: WFRF:(Sánchez González Jéssica) > (2017) > Clinical characteri...

  • Gkourogianni, AlexandraKarolinska Institutet (author)

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

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • 2016-11-21
  • Cary, USA :Oxford University Press,2017
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:oru-53667
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-53667URI
  • https://doi.org/10.1210/jc.2016-3313DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-359265URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:135423664URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

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  • Sinhué, Díaz-CuéllarLaboratorio 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 (author)
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  • Baron, JeffreySection 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 (author)
  • Nilsson, Ola,1970-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(Swepub:oru)oann (author)
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Related titles

  • In:Journal of Clinical Endocrinology and MetabolismCary, USA : Oxford University Press102:2, s. 460-4690021-972X1945-7197

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