IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).

ABSTRACT: BACKGROUND:Small for gestational age (SGA)-born children are a heterogeneous group with few genetic causes reported. Genetic alterations in the IGF1 receptor (IGF1R) are found in some SGA children. AIM:To investigate whether alterations in IGF1R gene are present in SGA born children. PATIENTS AND METHODS:We analysed 64 children born SGA who stayed short (mean -3.25 ± 0.9 SDS) within the first 4 years of age, and 36 SGA children who caught up growth (0.20 ± 1.1 SDS). PCR products of all coding IGF1R exons were screened by dHPLC followed by direct sequencing of conspicuous fragments to identify small nucleotide variants. The presence of IGF1R gene copy number alterations was determined by Multiplex Ligation-dependent Probe Amplification (MLPA). RESULTS:The cohort of short SGA born children r

SUBMITTER: Janchevska A 

PROVIDER: S-EPMC6290431 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature