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. 2024 Jan;194(1):9-16.
doi: 10.1002/ajmg.a.63412. Epub 2023 Sep 22.

Growth charts in DYRK1A syndrome

Pierre-Louis Lanvin  1 , Thomas Goronflot  2   3 , Bertrand Isidor  1   4 , Mathilde Nizon  1   4 , Benjamin Durand  5 , Salima El Chehadeh  5 , David Geneviève  6   7 , Valentin Ruault  6 , Mélanie Fradin  8 , Laurent Pasquier  8 , Julien Thévenon  9 , Bruno Delobel  10 , Lydie Burglen  11 , Alexandra Afenjar  11 , Laurence Faivre  12   13 , Christine Francannet  14 , Anne-Marie Guerrot  15   16 , Alice Goldenberg  15   16 , Sandra Mercier  1   4 , Delphine Héron  17 , Daphné Lehalle  17 , Cyril Mignot  17 , Isabelle Marey  9 , Perrine Charles  17 , Sébastien Moutton  18 , Stéphane Bézieau  1   4 , Allan Bayat  19   20 , Amélie Piton  21   22 , Marjolaine Willems  6   23 , Marie Vincent  1   4
Affiliations

Growth charts in DYRK1A syndrome

Pierre-Louis Lanvin et al. Am J Med Genet A. 2024 Jan.

Abstract

DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs. 43 females). The data were obtained from pediatric records, parent reporting, and scientific literature. Growth charts for height, weight, body mass index (BMI), and occipitofrontal circumference (OFC) were generated using generalized additive models through R package gamlss. The growth curves include height, weight, and OFC measurements for patients aged 0-5 years. In accordance with the literature, the charts show that individuals are more likely to present intrauterine growth restriction with low birth weight and microcephaly. The growth is then characterized by severe microcephaly, low weight, and short stature. This study proposes growth charts for widespread use in the management of patients with DYRK1A syndrome.

Keywords: DYRK1A; DYRK1A gene; DYRK1A syndrome; specific growth curves.

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References

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