[Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia].

OBJECTIVE: To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia. METHODS: Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members. RESULTS: Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION: The heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.

Effect of bronchopulmonary dysplasia on early intellectual development in preterm infants.

BACKGROUND: The aim of this study was to investigate the effect of bronchopulmonary dysplasia (BPD) on the early intellectual development of preterm infants. METHODS: From 2011 to 2015, 83 preterm infants diagnosed with BPD were recruited to the BPD group, and 89 preterm infants without BPD and 98 healthy term infants were randomly recruited to the non-BPD and term group, respectively. Neural and intellectual development according to the Gesell Development Scale were evaluated and compared between groups at 0-3 months, 3-6 months, 6-9 months, and 9-12 months of adjusted age for preterm infants and real age for term infants. Multivariate logistic regression was used to determine the associations between BPD and adverse neurological outcomes at 9-12 months of adjusted age. RESULTS: Compared with term infants, preterm infants had significantly lower developmental quotients for adaptability, gross motor, fine motor, language and social skills. At follow up, deficits in one or more neurofunctions related to adaptability, gross motor, fine motor, language and social skills were significantly more frequent in preterm children with BPD than in those with no history of BPD. BPD was independently associated with adverse neurological outcome at 9-12 months of adjusted age in preterm infants. CONCLUSIONS: Early intelligence disturbances occurred significantly more frequently in BPD infants than in non-BPD infants. Monitoring of the development of the nervous system in BPD infants should be strengthened.