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Review
. 2023 Jul;191(7):1814-1825.
doi: 10.1002/ajmg.a.63207. Epub 2023 Apr 13.

The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review

Gokcen Karamik  1 , Beyhan Tuysuz  2 , Esra Isik  3 , Aysegul Yilmaz  4 , Yasemin Alanay  5 , Evrim Cifci Sunamak  2 , Enise Avci Durmusalioglu  3 , Ferda Ozkinay  3 , Gokhan Ozan Cetin  6 , Nuray Ozturk  1 , Ercan Mihci  1 , Banu Nur  1
Affiliations
Review

The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review

Gokcen Karamik et al. Am J Med Genet A. 2023 Jul.

Abstract

Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including KANSL1 gene or intragenic pathogenic variants in KANSL1 gene. Here, we describe the clinical and genetic spectrum of eight Turkish children with KdVS due to a de novo 17q21.31 deletion, and report on several rare/new conditions. Eight patients from unrelated families aged between 17 months and 19 years enrolled in this study. All patients evaluated by a clinical geneticist, and the clinical diagnosis were confirmed by molecular karyotyping. KdVS patients had some common distinctive facial features. All patients had neuromotor retardation, and speech and language delay. Epilepsy, structural brain anomalies, ocular, ectodermal, and musculoskeletal findings, and friendly personality were remarkable in more than half of the patients. Hypertension, hypothyroidism, celiac disease, and postaxial polydactyly were among the rare/new conditions. Our study contributes to the clinical spectrum of patients with KdVS, while also provide a review by comparing them with previous cohort studies.

Keywords: 17q21.31 microdeletion syndrome; KdVS; Koolen-de Vries syndrome; molecular karyotyping.

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References

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