| Full text | |
| Author(s): |
Canton, Ana P. M.
[1]
;
Costa, Silvia S.
[2]
;
Rodrigues, Tatiane C.
[2]
;
Bertola, Debora R.
[2, 3]
;
Malaquias, Alexsandra C.
[1]
;
Correa, Fernanda A.
[4]
;
Arnhold, Ivo J. P.
[4]
;
Rosenberg, Carla
[2]
;
Jorge, Alexander A. L.
[1]
Total Authors: 9
|
| Affiliation: | [1] Univ Sao Paulo, Lab Endocrinol Celular & Mol LIM 25, Unidade Endocrinol Genet, Disciplina Endocrinol, Fac Med, BR-01246903 Sao Paulo - Brazil
[2] Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolutiva, BR-05508900 Sao Paulo - Brazil
[3] Univ Sao Paulo, Fac Med, Inst Crianca, Unidade Genet, BR-05403000 Sao Paulo - Brazil
[4] Univ Sao Paulo, Lab Hormonios & Genet Mol LIM 42, Unidade Endocrinol Desenvolvimento, Disciplina Endocrinol, Fac Med, Hosp Clin, BR-05403900 Sao Paulo - Brazil
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | EUROPEAN JOURNAL OF ENDOCRINOLOGY; v. 171, n. 2, p. 253-262, AUG 2014. |
| Web of Science Citations: | 16 |
| Abstract | |
Background: The etiology of prenatal-onset short stature with postnatal persistence is heterogeneous. Submicroscopic chromosomal imbalances, known as copy number variants (CNVs), may play a role in growth disorders. Objective: To analyze the CNVs present in a group of patients born small for gestational age (SGA) without a known cause. Patients and methods: A total of 51 patients with prenatal and postnatal growth retardation associated with dysmorphic features and/or developmental delay, but without criteria for the diagnosis of known syndromes, were selected. Array-based comparative genomic hybridization was performed using DNA obtained from all patients. The pathogenicity of CNVs was assessed by considering the following criteria: inheritance; gene content; overlap with genomic coordinates for a known genomic imbalance syndrome; and overlap with CNVs previously identified in other patients with prenatal- onset short stature. Results: In 17 of the 51 patients, 18 CNVs were identified. None of these imbalances has been reported in healthy individuals. Nine CNVs, found in eight patients (16%), were categorized as pathogenic or probably pathogenic. Deletions found in three patients overlapped with known microdeletion syndromes (4q, 10q26, and 22q11.2). These imbalances are de novo, gene rich and affect several candidate genes or genomic regions that may be involved in the mechanisms of growth regulation. Conclusion: Pathogenic CNVs in the selected patients born SGA were common (at least 16%), showing that rare CNVs are probably among the genetic causes of short stature in SGA patients and revealing genomic regions possibly implicated in this condition. (AU) | |
| FAPESP's process: | 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes |
| Grantee: | Carla Rosenberg |
| Support Opportunities: | Research Projects - Thematic Grants |
| 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 |