Arterial tortuosity syndrome (ATS; OMIM #208050) is a sporadic, autosomal, recessively inherited genetic disorder. ATS primarily causes the tortuosity and elongation of large and medium-sized arteries; however, other skeletal manifestations include dysmorphic features, such as hyperextensible skin, hypermobile joints, and congenital contractures. The present article reports the case of a female neonate, who, at birth, exhibited abnormal facial features, hypermobility of joints, and abnormal physical appearance. The patient was diagnosed with ATS during the first week of life, based on computed tomographic scans. In addition, angiographic results demonstrated elongation and tortuosity of the aorta, which were further supported using the results of genetic analysis. Mutation analysis of the solute carrier family 2 member 10 (SLC2A10) genes (Entrez Gene: 81031) detected a homozygous pathogenic c.243C>G (p. Ser81Arg) variant (dbSNP: rs80358230) in this patient, which supports the clinical diagnosis of ATS. Following the initial diagnosis, further investigations into the family history were carried out, and the results demonstrated that the patient's paternal grandmother and paternal aunt were also positive for ATS. The patient was subsequently referred to a tertiary care center for genetic counseling and further follow-up. Notably, carrier testing for at-risk relatives is recommended to identify family members that may be affected by this condition.
Keywords: abnormalities of collagen and elastin; arterial tortuosity syndrome; collagen maturation; disorders of collagen and elastin; disorders of connective tissue; glucose transporter 10; middle eastern countries; saudi arabia; slc2a10 gene; tgfβ signaling pathway.
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