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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Increased Identification of Symptom-Free Males wit ...
Increased Identification of Symptom-Free Males with Pathogenic Variants in the
ABCD1
Gene
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Pdf Summary
The article discusses the increased identification of symptom-free males with pathogenic variants in the ABCD1 gene, which causes X-linked adrenoleukodystrophy (XALD). XALD mainly affects males and can have different presentations even within the same family. The three main presentations include childhood cerebral XALD (cALD), Adrenomyeloneuropathy (AMN), and Addison's disease. Newborn screening for XALD has been implemented in many states, leading to the identification of more asymptomatic family members. <br /><br />The case report presented a newborn male who tested positive for XALD on newborn screening. Confirmatory testing revealed elevated levels of very long chain fatty acids (VLCFA) and a likely pathogenic variant in the ABCD1 gene. The proband's mother also tested positive for the ABCD1 variant but had no symptoms. The proband's maternal grandfather and his brother were also found to carry the variant but were asymptomatic. Cascade testing identified another family member with the ABCD1 variant.<br /><br />The article highlights the lack of genotype-phenotype correlation and the difficulty in predicting the clinical form of XALD based on genetic information. The authors suggest that the percentage of asymptomatic males with pathogenic ABCD1 variants may be higher than previously reported and recommend further investigation to provide more accurate information to families and gain insights into the variability of symptoms in XALD.<br /><br />The authors emphasize the importance of newborn screening in expanding knowledge about XALD and the significance of testing asymptomatic family members to ensure comprehensive risk assessment. Overall, the article emphasizes the need for further research to better understand XALD and improve patient care.
Asset Subtitle
Presenting Author - Adelyn Beil, MS, MPH, CGC; Co-Author - Amanda B. Pritchard, MD; Co-Author - Elizabeth Ames, MD PhD;
Meta Tag
Biochemical genetics
Counseling
Metabolic Disorder
Phenotypic delineation of disorders
X-Inactivation/X-Linked Disease
Co-Author
Amanda B. Pritchard, MD
Co-Author
Elizabeth Ames, MD PhD
Presenting Author
Adelyn Beil, MS, MPH, CGC
Keywords
XALD
ABCD1 gene
newborn screening
asymptomatic family members
pathogenic variants
genotype-phenotype correlation
clinical form
cascade testing
symptom-free males
improve patient care
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