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A case of cohesinopathy with a novel de-novo SMC1A splice site mutation

Short clinical summary The patient’s mother reported a twin pregnancy with missed abortion of one of the twins around the sixth week of gestation. Shortly before birth, a prenatal ultrasound revealed a diaphragmatic hernia and microcephaly in the remaining twin. The female patient was born at the 41st week of gestation. Her birth weight was 2720 g (P10) and her body length was 50 cm (P50). Postpartal investigation revealed congenital hip dysplasia. The diaphragmatic hernia was operated upon at the age of 2 days. The body length and weight consistently developed close to the 10th centile, whereas the head circumference was constantly below the third. The developmental milestones were delayed (free walking at 18 months and first words at 21⁄2 years). The first epileptic seizures occurred at the age of 3 months. The girl had generalized tonic–clonic seizures, occasionally occurring in impressive clusters lasting 24–48 h as well as clusters of seizures with secondary generalization. The electroencephalography showed nonspecific monomorphic generalized slow-wave activity with rare spikes. The parents never observed febrile seizures but reported seizures in connection with a sinking body temperature after febrile infections. Genetic analysis revealed a normal female karyotype of 46,XX and normal array comparative genomic hybridization results.