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A boy and his father with severe short stature, progressively evolving body asymmetry, and skeletal abnormalities are presented. A next-generation sequencing exome study was performed, and the patient was found heterozygous for the c.1609G>A (p.Gly537Ser) mutation in the <i>COL2A1</i> gene. This mutation is considered a pathogenic variant and has been previously registered in the Human Gene Mutation Database (HGMD) in association with spondyloepiphyseal dysplasia (accession: CM052184). It has been described in a patient as a sporadic case and resulted in a severe phenotype. Segregation studies, in order to determine the inheritance pattern, identified the same mutation in our patient's father. The variant was transmitted in an autosomal dominant pattern. In conclusion, we describe a patient with hereditary spondyloepiphyseal dysplasia congenita, caused by a c.1609G_A (p.Gly537Ser) mutation in the <i>COL2A1</i> gene, which resulted in a milder phenotype.

ObjectivesCongenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms.Case PresentationIn this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (HNF4A) gene in both families. Pathogenic variants of HNF4A gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes.ConclusionGenetic testing for CHI is strongly recommended if neonatal hypoglycemia persists. A family history of MODY or presumed type II diabetes can support that the affected gene is HNF4A.