2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Dual Diagnosis of Maple Syrup Urine Disease 1B and 6q14.1 Deletion in an Individual with Neurodevelopmental and Metabolic Phenotypes

Pdf Summary

The research poster presentation discusses a case study of a 2-year-old child who presented with ataxia and slurred speech. The child had a history of speech and motor delays and was diagnosed with Maple Syrup Urine Disease (MSUD), a metabolic disorder. The diagnosis was confirmed by elevated branched chain amino acids in the cerebrospinal fluid and plasma. The child's MRI showed acute/subacute edema in several areas of the brain, which improved with thiamine supplementation.<br /><br />The study also identified a deletion in the PHIP gene associated with Chung-Jansen Syndrome (CHUJANS), a developmental disorder characterized by delayed development, intellectual difficulties, behavioral abnormalities, and obesity. The deletion in the PHIP gene was found together with a variant in the BCKDHB gene, which is associated with MSUD. Both variants were considered diagnostic findings in this case.<br /><br />The study highlights the clinical utility of genome sequencing (GS) in diagnosing complex pediatric cases with neurological symptoms. It emphasizes the importance of identifying genetic variants that may be contributing to a patient's symptoms and the potential impact of consanguinity on the occurrence of multiple genetic disorders in a single individual.<br /><br />Overall, the research poster provides insights into the genetic basis of MSUD and CHUJANS, emphasizing the importance of genetic testing and its role in diagnosing and understanding complex neurodevelopmental disorders.

Asset Subtitle

Presenting Author - Xin (David) Wang, Ph.D.; Co-Author - Kelly Kirsten, MS, LCGC; Co-Author - Meredith Wright, Ph.D.; Co-Author - Olivia Kim-McManus, M.D.; Co-Author - Sophia Ceulemans, MS, LCGC; Co-Author - Annette Feigenbaum, MBChB, FRCP, DABMG; Co-Author - Hannah Tsai, MS, LCGC; Co-Author - Jerica L. Lenberg, MS, LCGC; Co-Author - Paula Gray, B.S.; Co-Author - Deepali Shinde, Ph.D.; Co-Author - Lucia Guidugli, Ph.D. FACMG; Co-Author - Mari Tokita, M.D.;

Meta Tag

Biochemical genetics

Brain/Nervous System

Chromosomal Abnormalities

Exome sequencing

Genetic Testing

Co-Author Kelly Kirsten, MS, LCGC

Co-Author Meredith Wright, Ph.D.

Co-Author Olivia Kim-McManus, M.D.

Co-Author Sophia Ceulemans, MS, LCGC

Co-Author Annette Feigenbaum, MBChB, FRCP, DABMG

Co-Author Hannah Tsai, MS, LCGC

Co-Author Jerica L. Lenberg, MS, LCGC

Co-Author Paula Gray, B.S.

Co-Author Deepali Shinde, Ph.D.

Co-Author Lucia Guidugli, Ph.D. FACMG

Co-Author Mari Tokita, M.D.

Presenting Author Xin (David) Wang, Ph.D.

Keywords

2-year-old child

ataxia

slurred speech

Maple Syrup Urine Disease

MSUD

metabolic disorder

branched chain amino acids

MRI

edema

genome sequencing