Novel Pathogenic Variant of X-Linked Adrenoleukodystrophy in Mother of Affected Boys: Better Late Than Never

Journal of Case Reports

article

Chakshu Chaudhry¹  Inusha Panigrahi¹  Priyanka Srivastava¹ 

[1]Genetic & Metabolic Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research

关键词: Adrenoleukodystrophy;    DNA;    Genetic Counseling;    Peroxisomal Disorders;    Pregnancy.;   

DOI  :  10.17659/01.2020.0054

学科分类：生理学

来源: Journal of Case Reports

【 摘 要 】

Background: X-linked adrenoleukodystrophy (XALD, OMIM#300100) is the most common peroxisomal biogenesis disorder (PBD) presenting in the late childhood to adolescent age with neurological deterioration and diffuse central nervous system involvement. Case Report: We report a family which came to us for genetic counselling. Their two sons had progressive neuroregression and had expired in childhood. Molecular diagnosis confirmed by testing the mother by targeted next generation sequencing (NGS), with finding of a novel pathogenic variant in ABCD1 (OMIM*300371) gene. This variant resulted in a truncated protein which may lead to defects in very long chain fatty acids degradation. Genetic counselling was done, recurrence risk of the disease was explained and availability of prenatal testing was discussed. Conclusion: In certain cases of genetic disorder, where the DNA of the patient is not available, parental testing can be useful.

【 授权许可】

Unknown