Growth charts in DYRK1A syndrome

被引：1

作者：

Lanvin, Pierre-Louis ^{[1
]}

Goronflot, Thomas ^{[2
,3
]}

Isidor, Bertrand ^{[1
,4
]}

Nizon, Mathilde ^{[1
,4
]}

Durand, Benjamin ^{[5
]}

El Chehadeh, Salima ^{[5
]}

Genevieve, David ^{[6
,7
,8
]}

Ruault, Valentin ^{[6
,7
]}

Fradin, Melanie ^{[9
]}

Pasquier, Laurent ^{[9
]}

Thevenon, Julien ^{[10
]}

Delobel, Bruno ^{[11
]}

Burglen, Lydie ^{[12
]}

Afenjar, Alexandra ^{[12
]}

Faivre, Laurence ^{[13
,14
,15
]}

Francannet, Christine ^{[16
]}

Guerrot, Anne-Marie ^{[17
,18
]}

Goldenberg, Alice ^{[17
,18
]}

Mercier, Sandra ^{[4
]}

Heron, Delphine ^{[19
]}

Lehalle, Daphne ^{[19
]}

Mignot, Cyril ^{[19
]}

Marey, Isabelle ^{[10
]}

Charles, Perrine ^{[19
]}

Moutton, Sebastien ^{[20
]}

Bezieau, Stephane ^{[1
,4
]}

Bayat, Allan ^{[21
,22
]}

Piton, Amelie ^{[23
,24
]}

Willems, Marjolaine ^{[6
,7
,25
]}

Vincent, Marie ^{[1
,4
,26
]}

机构：

[1] CHU Nantes, Serv Genet Med, Nantes, France

[2] Nantes Univ, CHU Nantes, Pole Hosp Univ St Publ 11, Clin Donnees, Nantes, France

[3] INSERM, CIC 1413,, Nantes, France

[4] Univ Nantes, INSERM, CNRS, Inst Thorax, Nantes, France

[5] CHU Strasbourg, Serv Genet Med, Strasbourg, France

[6] Arnaud Villeneuve Hosp, Reference Ctr AD SOOR, AnDDI RARE, Montpellier, France

[7] Univ Montpellier, Montpellier, France

[8] Univ Montpellier, INSERM, U1183, Montpellier, France

[9] CHU Rennes, Serv Genet Med, Rennes, France

[10] CHU Grenoble, Serv Genet Med, Grenoble, France

[11] GH Inst Catholique Lille, Serv Genet Med, Lille, France

[12] APHP Armand Trousseau, Serv Neuropediat & Genet, Paris, France

[13] CHU Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France

[14] CHU Dijon, FHU TRANSLAD, Dijon, France

[15] Univ Bourgogne, Equipe GAD, INSERM, UMR 1231, Dijon, France

[16] CHU Clermont Ferrand, Serv Genet Med, Clermont Ferrand, France

[17] Normandie Univ, Ctr Dev Disorders, Dept Genet & Reference, UNIROUEN,CHU Rouen, Rouen, France

[18] FHU G4 Genom, INSERM, U1245, F-76000 Rouen, France

[19] APHP Pitie Salpetriere, Serv Genet med, Paris, France

[20] Maison Sante Protestante Bordeaux Bagatelle, Talence, France

[21] Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Filadelfia, Dianalund, Denmark

[22] Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark

[23] Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire, Strasbourg, France

[24] CNRS, INSERM, UMR 7104, U1258 Illkirch Graffenstaden, Illkirch Graffenstaden, France

[25] INM, INSERM, U1298, Montpellier, France

[26] CHU Nantes, Serv Genet Med, 1 Pl Alexis Ricordeau, F-44093 Nantes, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2024年 / 194卷 / 01期

关键词：

DYRK1A; DYRK1A gene; DYRK1A syndrome; specific growth curves; INTELLECTUAL DISABILITY; MUTATIONS; DELAY; GENE;

D O I：

10.1002/ajmg.a.63412

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：9 / 16

页数：8

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