Molecular syndromology · 2022
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Tekmenuray-Unal Aysel, Durmaz Ceren Damla
Аннотация
INTRODUCTION: FBLN5-related cutis laxa is a very rare, autosomal recessive syndrome that is characterized by loose, wrinkled, and redundant skin, sagging cheeks, emphysema, aortic or pulmonary artery abnormalities, inguinal hernia, and diverticula of the gastrointestinal and urinary tract.
CASE PRESENTATION: In this study, we report an 8-year-old Turkish girl with a novel homozygous missense variant in the FBLN5 gene, c.862G>T, p.(Asp288Tyr). Her unaffected parents were carriers of the same variant. The patient had loose skin, short stature, broad eyebrows, large ears, inguinal hernia, frequent respiratory tract infections, a history of peripheral pulmonary artery stenosis, and fourth finger contractures on both hands.
DISCUSSION: To our knowledge, 8 families have been reported to date, and this family is the third Turkish family with FBLN5-related cutis laxa. In addition to the classical findings of cutis laxa, the patient had fourth finger contractures on both hands. This report contributes to the ongoing clinical and genetic characterization of FBLN5-related cutis laxa.
CASE PRESENTATION: In this study, we report an 8-year-old Turkish girl with a novel homozygous missense variant in the FBLN5 gene, c.862G>T, p.(Asp288Tyr). Her unaffected parents were carriers of the same variant. The patient had loose skin, short stature, broad eyebrows, large ears, inguinal hernia, frequent respiratory tract infections, a history of peripheral pulmonary artery stenosis, and fourth finger contractures on both hands.
DISCUSSION: To our knowledge, 8 families have been reported to date, and this family is the third Turkish family with FBLN5-related cutis laxa. In addition to the classical findings of cutis laxa, the patient had fourth finger contractures on both hands. This report contributes to the ongoing clinical and genetic characterization of FBLN5-related cutis laxa.