2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-A case of ultra-rare, X-linked HSD10 mitochondrial disease in a female patient.

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The report discusses a case of a 9-year-old female with HSD10 mitochondrial disease, which is an ultra-rare, X-linked disorder. The disease is caused by variants in the HSD17B10 gene and typically affects males more severely, causing neurodegenerative disease, epilepsy, retinopathy, cardiomyopathy, and early demise. In females, the presentation can vary from asymptomatic to non-progressive developmental delay, intellectual disability, and learning problems.<br /><br />The patient in this case had mild intellectual disability and neurodevelopmental disorders since early childhood. She experienced delays in motor skills, speech, and social and emotional development. Her cognitive functioning was at a first-grade level, and she was diagnosed with ADHD but not autism. She also had optic atrophy and a history of ulcerative proctosigmoiditis.<br /><br />The report highlights the clinical variability of HSD10 mitochondrial disease in heterozygous females. It suggests that the disease may be under-recognized and emphasizes the importance of comprehensive molecular evaluation for females with mild intellectual disability.<br /><br />In terms of diagnostic testing, a chromosome microarray showed a loss of genetic material in an intron of the NRXN1 gene but was inconclusive. Subsequent genetic testing identified a heterozygous, de novo pathogenic variant in the HSD17B10 gene, confirming the diagnosis of HSD10 disease. Ophthalmic examination ruled out cardiomyopathy.<br /><br />Overall, this case provides additional phenotypic information about HSD10 mitochondrial disease in females and suggests the need for further research and recognition of the condition.

Asset Subtitle

Co-Author - Aditi Yadav, MD; Presenting Author - Mary-Beth Roberts, MS, CGC;

Meta Tag

array CGH

Brain/Nervous System

Cardiac/circulatory disorders

Chromosomal Abnormalities

Cognitive Disorders

Counseling

Eye disorders

Genetic Testing

Intellectual disability

Mitochondria

NextGen Sequencing

Phenotype

Sequencing

X-Inactivation/X-Linked Disease

Co-Author Aditi Yadav, MD

Presenting Author Mary-Beth Roberts, MS, CGC

Keywords

HSD10 mitochondrial disease

X-linked disorder

intellectual disability

learning problems

ADHD

optic atrophy

ulcerative proctosigmoiditis

genetic testing

pathogenic variant

condition recognition