2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Case Report: PHACE-Like Syndrome With <em>TMEM260</em> Compound Heterozygous Variants

Case Report: PHACE-Like Syndrome With TMEM260 Compound Heterozygous Variants
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This case report describes a 10-year-old male patient who presented with features similar to PHACE syndrome and compound heterozygous TMEM260 variants. The patient had truncus arteriosus type 2, single coronal artery, and a supraumbilical raphe. He achieved developmental milestones including head control, rolling, sitting, and walking, but had mild intellectual disability and scoliosis. He also had unilateral hearing loss in his left ear and myopia. Blood examination revealed normal kidney function. Genetic testing revealed compound heterozygous variants in the TMEM260 gene, which has been associated with a syndrome characterized by truncus arteriosus, ventral septal defect, and renal failure. Some of the previously reported patients with TMEM260 variants had overlapping features with PHACE syndrome, such as supraumbilical raphe and congenital heart defects. The patient in this report expands the phenotypic spectrum of TMEM260-related disorders and suggests a possible association with a PHACE-like phenotype. The study was supported by grants and the authors have no conflicts of interest to disclose. The methods included exome sequencing and data analysis to identify the TMEM260 variants in the patient. The identified variants were confirmed by Sanger sequencing in the patient and his parents. A comparison of clinical features between PHACE syndrome and TMEM260-related syndrome was provided in Table 1.

Asset Subtitle

Presenting Author - Yukiko Kuroda, MD, PhD; Co-Author - Yumi Enomoto, PhD; Co-Author - Yoko Saito, MD; Co-Author - Kenji Kurosawa, MD, PhD;

Meta Tag

Cardiac/circulatory disorders

Congenital Anomaly

Exome sequencing

Genotype-Phenotype Correlations

Identification of Disease Genes

Intellectual disability

Phenotypic delineation of disorders

Co-Author Yumi Enomoto, PhD

Co-Author Yoko Saito, MD

Co-Author Kenji Kurosawa, MD, PhD

Presenting Author Yukiko Kuroda, MD, PhD

Keywords

case report

10-year-old

PHACE syndrome

TMEM260 variants

truncus arteriosus

supraumbilical raphe

intellectual disability

scoliosis

genetic testing

phenotypic spectrum