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Aggrecan Mutations ...
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
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- Tatsi, Christina (author)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda Maryland, USA
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- Gkourogianni, Alexandra (author)
- Karolinska Institutet
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- Mohnike, Klaus (author)
- Department of Pediatrics, Otto-von-Guericke-University, Magdeburg, Germany
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- DeArment, Diana (author)
- Division of Pediatric Endocrinology, Children's Hospital of Pittsburgh of University of Pittsburg Medical Center, University of Pittsburgh, Pittsburgh Pennsylvania, USA
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- Witchel, Selma (author)
- Division of Pediatric Endocrinology, Children's Hospital of Pittsburgh of University of Pittsburg Medical Center, University of Pittsburgh, Pittsburgh Pennsylvania, USA
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- Andrade, Anenisia C. (author)
- Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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- Markello, Thomas C. (author)
- Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda Maryland, USA
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- Baron, Jeffrey (author)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda Maryland, USA
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- Nilsson, Ola, 1970- (author)
- Karolinska Institutet,Örebro universitet,Institutionen för medicinska vetenskaper,Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
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- Jee, Youn Hee (author)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda Maryland, USA
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(creator_code:org_t)
- 2017-06-28
- 2017
- English.
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In: Journal of the Endocrine Society. - : Endocrine Society. - 2472-1972. ; 1:8, s. 1006-1011
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Abstract
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- Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation, and joint disease. The inheritance pattern and the presence of bone age equal to or greater than chronological age have been consistent features, serving as diagnostic clues. From family 1, a 6-year-old boy presented with short stature [height standard deviation score (SDS), -1.75] and bone age advanced by 3 years. There was no family history of short stature (height SDS: father, -0.76; mother, 0.7). Exome sequencing followed by Sanger sequencing identified a de novo novel heterozygous frameshift mutation in ACAN (c.6404delC: p.A2135Dfs). From family 2, a 12-year-old boy was evaluated for short stature (height SDS, -3.9). His bone age at the time of genetic evaluation was approximately 1 year less than his chronological age. Family history was consistent with an autosomal dominant inheritance of short stature, with several affected members also showing early-onset osteoarthritis. Exome sequencing, confirmed by Sanger sequencing, identified a novel nonsense mutation in ACAN (c.4852C>T: p.Q1618X), which cosegregated with the phenotype. In conclusion, patients with ACAN mutations may present with nonfamilial short stature and with bone age less than chronological age. These findings expand the known phenotypic spectrum of heterozygous ACAN mutations and indicate that this diagnosis should be considered in children without a family history of short stature and in children without accelerated skeletal maturation.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Keyword
- aggrecan
- short stature
- advanced bone age
- exome sequencing
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Tatsi, Christina
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Gkourogianni, Al ...
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Mohnike, Klaus
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DeArment, Diana
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Witchel, Selma
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Andrade, Anenisi ...
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show more...
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Markello, Thomas ...
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Baron, Jeffrey
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Nilsson, Ola, 19 ...
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Jee, Youn Hee
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Journal of the E ...
- By the university
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Örebro University
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Karolinska Institutet