Objective To molecularly test and analyze the mutated gene in a patient with Leber's congenital amauro-sis type 1 combined with pregnancy,a rare genetic disorder caused by compound heterozygous variants in the GUCY2D gene,and to provide appropriate genetic counseling for the family line.Methods Clinical data of the proband and his spouse were collected.Whole exome sequencing(WES)was used to detect the molecular genetics of DNA derived from peripheral blood of the two patients,and Sanger DNA sequencing was used to verify the analysis of their relatives.Professional geneticists interpreted the test results and genetic counseling was provided to the patients.Results The patient and her husband suffered from severe visual impairment,and the patient presented with severe visual impairment,color blindness,better night vision than day vision,but no nystagmus,no irritating"poking eyes"in childhood,no central visual field defect,no complaints of night blindness,and no specific alterations in skin and hair pigmentation on examination,no abnormalities on neurological examination,no visual acuity in both eyes and no abnormalities on neurological examination.The patient's examination showed no specific changes in skin or hair pigmentation,neurological examination showed no abnormality and binocular vis-ual acuity could not be measured.The patient did not receive any relevant interventional therapy.Her husband had albinism.Molecular testing of the patient and his family line revealed that the patient was compound heterozygous for NM_000180.3:c.721G＞C(p.Ala241Pro)and NM_000180.3:c.542G＞A(p.Trp181*)in the GUCY2D gene,and the two different variants came from the patient's father and mother,and the two variants are Suspected PATHOGENIC VARIANT.This com-pound heterozygosity has not yet been reported in China.Her husband is TYR,NM_000372.4:c.832C＞T(p.Arg278*)purely pathogenic.After molecular testing of the family line and genetic counseling,the patient's fetus is not at risk for ophthalmo-logic disease in either spouse and routine labor and delivery testing was recommended to await delivery,somewhat avoiding nonessential invasive diagnostics.Conclusion This study identified different pathogenic mutations in the proband and his spouse,explained the pathogenic cause of the patient and provided appropriate fertility guidance for the patient.
维普
万方数据
