2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Clinical and Basic Investigations into Congenital Disorders of Glycosylation: <em>SLC35C1</em>-CDG the Fucose Golgi Transporter

Clinical and Basic Investigations into Congenital Disorders of Glycosylation: SLC35C1-CDG the Fucose Golgi Transporter

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This document discusses the clinical and basic investigations into congenital disorders of glycosylation, specifically focusing on SLC35C1-CDG, which is caused by pathogenic variants in the SLC35C1 gene. The disorder is characterized by impaired fucosylation and is an autosomal recessive condition. The document presents a case study of a 10-year-old Egyptian male with SLC35C1-CDG who exhibits symptoms such as microcephaly, global developmental delay, dysmorphic features, and growth failure. The patient also has eustachian tube dysfunction, truncal hypotonia, spastic quadriplegia, and left hip dislocation. Treatment options include oral fucose supplementation to slow the progression of the disorder. The patient has undergone various evaluations, including otolaryngology, hematology, neurodevelopmental, and orthopedic evaluations. A homozygous variant of unknown significance in the SLC35C1 gene has been detected through whole exome sequencing, which confirms the diagnosis of SLC35C1-CDG. The patient has also undergone magnetic resonance imaging, which revealed white matter loss and a small brain. Further functional studies and genetic counseling are also mentioned in the document. The case study provides a comprehensive overview of the clinical presentation and diagnostic investigations involved in managing patients with SLC35C1-CDG.

Asset Subtitle

Presenting Author - Zoe Wolfenson, BS; Co-Author - Marla Sabaii, RN BSN; Co-Author - William A. Gahl, MD, Ph.D; Co-Author - Lynne Wolfe, MS, CRNP, BC;

Meta Tag

Brain/Nervous System

Clinical History

Exome sequencing

Genetic Diversity

Genetic Testing

Genome sequencing

Identification of Disease Genes

Inheritance Patterns

Lysosomal Diseases

Metabolic Disorder

Pathology

Sequencing

Therapy

Co-Author Marla Sabaii, RN BSN

Co-Author William A. Gahl, MD, Ph.D

Co-Author Lynne Wolfe, MS, CRNP, BC

Presenting Author Zoe Wolfenson, BS

Keywords

congenital disorders of glycosylation

SLC35C1-CDG

SLC35C1 gene

fucosylation impairment

autosomal recessive condition

microcephaly

global developmental delay

dysmorphic features

growth failure

eustachian tube dysfunction