| Full text | |
| Author(s): Show less - |
Homma, Thais Kataoka
[1, 2]
;
Freire, Bruna Lucheze
[1, 2]
;
Honjo Kawahira, Rachel Sayuri
[3]
;
Dauber, Andrew
[4]
;
de Assis Funari, Mariana Ferreira
[2]
;
Lerario, Antonio Marcondes
[5]
;
Nishi, Mirian Yumie
[2]
;
de Albuquerque, Edoarda Vasco
[1]
;
Vasques, Gabriela de Andrade
[1]
;
Collett-Solberg, Paulo Ferrez
[6]
;
Miura Sugayama, Sofia Mizuho
[3]
;
Bertola, Debora Romeo
[3]
;
Kim, Chong Ae
[3]
;
Prado Arnhold, Ivo Jorge
[2]
;
Malaquias, Alexsandra Christianne
[1, 7]
;
de Lima Jorge, Alexander Augusto
[1, 2]
Total Authors: 16
|
| Affiliation: | [1] FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo - Brazil
[2] FMUSP, Hosp Clin Fac, Dev Endocrinol Unit, Lab Hormones & Mol Genet LIM42, Sao Paulo - Brazil
[3] Univ Sao Paulo, Hosp Clin, Inst Crianca, Fac Med, Genet Unit, Sao Paulo - Brazil
[4] Childrens Natl Hlth Syst, Div Endocrinol, Washington, DC - USA
[5] Univ Michigan, Dept Internal Med, Div Metab Endocrinol & Diabet, Ann Arbor, MI 48109 - USA
[6] Univ Estado Rio de Janeiro, Fac Ciencia Med, Endocrinol Discipline, Rio De Janeiro - Brazil
[7] Fac Ciencias Med Santa Casa Sao Paulo, Irmandade Santa Casa Misericordia Sao Paulo, Dept Pediat, Pediat Endocrinol Unit, Sao Paulo, SP - Brazil
Total Affiliations: 7
|
| Document type: | Journal article |
| Source: | JOURNAL OF PEDIATRICS; v. 215, p. 192-198, DEC 2019. |
| Web of Science Citations: | 0 |
| Abstract | |
Objective To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause. Study design For whole exome sequencing analysis, we selected 44 children born small for gestational age with persistent short stature, and additional features, such as dysmorphic face, major malformation, developmental delay, and/or intellectual disability. Seven patients had negative candidate gene testing based on clinical suspicion and 37 patients had syndromic conditions of unknown etiology. Results Of the 44 patients, 15 (34%) had pathogenic/likely pathogenic variants in genes already associated with growth disturbance: COL2A1 (n = 2), SRCAP (n = 2), AFF4, ACTG1, ANKRD11, BCL11B, BRCA1, CDKN1C, GINS1, INPP5K, KIF11, KMT2A, and POC1A (n = 1 each). Most of the genes found to be deleterious participate in fundamental cellular processes, such as cell replication and DNA repair. Conclusions The rarity and heterogeneity of syndromic short stature make the clinical diagnosis difficult. Whole exome sequencing allows the diagnosis of previously undiagnosed patients with syndromic short stature. (AU) | |
| FAPESP's process: | 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders |
| Grantee: | Alexander Augusto de Lima Jorge |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 15/26980-7 - Genetic causes of prenatal onset growth disorder |
| Grantee: | Thais Kataoka Homma |
| Support Opportunities: | Scholarships in Brazil - Doctorate |