CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

Janet M. Legare; Richard M. Pauli; Jacqueline T. Hecht; Michael B. Bober; Cory J. Smid; Peggy Modaff; Mary Ellen Little; David F. Rodriguez-Buritica; Maria Elena Serna; Adekemi Yewande Alade; Chengxin Liu; Julie E. Hoover-Fong; S. Shahrukh Hashmi

doi:10.1002/ajmg.a.62096

CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

Janet M. Legare, Richard M. Pauli, Jacqueline T. Hecht, Michael B. Bober, Cory J. Smid, Peggy Modaff, Mary Ellen Little, David F. Rodriguez-Buritica, Maria Elena Serna, Adekemi Yewande Alade, Chengxin Liu, Julie E. Hoover-Fong, S. Shahrukh Hashmi

School of Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

Achondroplasia is the most common disproportionate short statured skeletal dysplasia with a prevalence of approximately 1:20,000–30,000. We created the largest database to date of a historical cohort of 1374 patients with achondroplasia (CLARITY—aChondropLasia nAtuRal hIsTory studY). This cohort was queried for the presence of unrecognized or under-recognized features associated with achondroplasia. Craniosynostosis was found to co-occur with achondroplasia in 9 (0.65%) patients in this cohort, which is much higher than the general population prevalence of 3.1–7.2 per 10,000. In addition, 27 patients had seizures (2.0%), an apparent excess as compared to the general population. Only two people had diabetes despite a high rate of adult obesity. This report documents for the first time an increased prevalence of craniosynostosis in persons with achondroplasia, and adds support to previous observations of an apparently higher than expected prevalence of seizures and lower prevalence of diabetes mellitus.

Original language	English (US)
Pages (from-to)	1168-1174
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	185
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.62096
State	Published - Apr 2021

Keywords

FGFR3
achondroplasia
craniosynostosis
diabetes mellitus
natural history study
seizure

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.62096

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Legare, J. M., Pauli, R. M., Hecht, J. T., Bober, M. B., Smid, C. J., Modaff, P., Little, M. E., Rodriguez-Buritica, D. F., Serna, M. E., Alade, A. Y., Liu, C., Hoover-Fong, J. E., & Hashmi, S. S. (2021). CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus. American Journal of Medical Genetics, Part A, 185(4), 1168-1174. https://doi.org/10.1002/ajmg.a.62096

Legare, JM, Pauli, RM, Hecht, JT, Bober, MB, Smid, CJ, Modaff, P, Little, ME, Rodriguez-Buritica, DF, Serna, ME, Alade, AY, Liu, C, Hoover-Fong, JE & Hashmi, SS 2021, 'CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus', American Journal of Medical Genetics, Part A, vol. 185, no. 4, pp. 1168-1174. https://doi.org/10.1002/ajmg.a.62096

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title = "CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus",

abstract = "Achondroplasia is the most common disproportionate short statured skeletal dysplasia with a prevalence of approximately 1:20,000–30,000. We created the largest database to date of a historical cohort of 1374 patients with achondroplasia (CLARITY—aChondropLasia nAtuRal hIsTory studY). This cohort was queried for the presence of unrecognized or under-recognized features associated with achondroplasia. Craniosynostosis was found to co-occur with achondroplasia in 9 (0.65%) patients in this cohort, which is much higher than the general population prevalence of 3.1–7.2 per 10,000. In addition, 27 patients had seizures (2.0%), an apparent excess as compared to the general population. Only two people had diabetes despite a high rate of adult obesity. This report documents for the first time an increased prevalence of craniosynostosis in persons with achondroplasia, and adds support to previous observations of an apparently higher than expected prevalence of seizures and lower prevalence of diabetes mellitus.",

keywords = "FGFR3, achondroplasia, craniosynostosis, diabetes mellitus, natural history study, seizure",

author = "Legare, {Janet M.} and Pauli, {Richard M.} and Hecht, {Jacqueline T.} and Bober, {Michael B.} and Smid, {Cory J.} and Peggy Modaff and Little, {Mary Ellen} and Rodriguez-Buritica, {David F.} and Serna, {Maria Elena} and Alade, {Adekemi Yewande} and Chengxin Liu and Hoover-Fong, {Julie E.} and Hashmi, {S. Shahrukh}",

note = "Funding Information: The CLARITY study was funded by generous support from BioMarin Pharmaceuticals and the Greenberg Center for Skeletal Dysplasias in the McKusick‐Nathans Institute of the Department of Genetic Medicine at Johns Hopkins University. Publisher Copyright: {\textcopyright} 2021 Wiley Periodicals LLC.",

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doi = "10.1002/ajmg.a.62096",

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AU - Pauli, Richard M.

AU - Hecht, Jacqueline T.

AU - Bober, Michael B.

AU - Smid, Cory J.

AU - Modaff, Peggy

AU - Little, Mary Ellen

AU - Rodriguez-Buritica, David F.

AU - Serna, Maria Elena

AU - Alade, Adekemi Yewande

AU - Liu, Chengxin

AU - Hoover-Fong, Julie E.

AU - Hashmi, S. Shahrukh

N1 - Funding Information: The CLARITY study was funded by generous support from BioMarin Pharmaceuticals and the Greenberg Center for Skeletal Dysplasias in the McKusick‐Nathans Institute of the Department of Genetic Medicine at Johns Hopkins University. Publisher Copyright: © 2021 Wiley Periodicals LLC.

PY - 2021/4

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N2 - Achondroplasia is the most common disproportionate short statured skeletal dysplasia with a prevalence of approximately 1:20,000–30,000. We created the largest database to date of a historical cohort of 1374 patients with achondroplasia (CLARITY—aChondropLasia nAtuRal hIsTory studY). This cohort was queried for the presence of unrecognized or under-recognized features associated with achondroplasia. Craniosynostosis was found to co-occur with achondroplasia in 9 (0.65%) patients in this cohort, which is much higher than the general population prevalence of 3.1–7.2 per 10,000. In addition, 27 patients had seizures (2.0%), an apparent excess as compared to the general population. Only two people had diabetes despite a high rate of adult obesity. This report documents for the first time an increased prevalence of craniosynostosis in persons with achondroplasia, and adds support to previous observations of an apparently higher than expected prevalence of seizures and lower prevalence of diabetes mellitus.

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CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

Abstract

Keywords

ASJC Scopus subject areas

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