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

doi:10.1002/ajmg.a.63207

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

Affiliations

¹ Department of Pediatrics, Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey.
² Department of Pediatrics, Division of Pediatric Genetics, Cerrahpaşa University, Istanbul, Turkey.
³ Department of Pediatrics, Division of Pediatric Genetics, Ege University, Izmir, Turkey.
⁴ Department of Pediatrics, Division of Pediatric Genetics, Ondokuz Mayıs University, Samsun, Turkey.
⁵ Department of Pediatrics, Division of Pediatric Genetics, Acıbadem University, Istanbul, Turkey.
⁶ Department of Medical Genetics, Pamukkale University, Denizli, Turkey.

PMID: 37053206
DOI: 10.1002/ajmg.a.63207

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.

. 2023 Jul;191(7):1814-1825.

doi: 10.1002/ajmg.a.63207. Epub 2023 Apr 13.

Authors

Affiliations

¹ Department of Pediatrics, Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey.
² Department of Pediatrics, Division of Pediatric Genetics, Cerrahpaşa University, Istanbul, Turkey.
³ Department of Pediatrics, Division of Pediatric Genetics, Ege University, Izmir, Turkey.
⁴ Department of Pediatrics, Division of Pediatric Genetics, Ondokuz Mayıs University, Samsun, Turkey.
⁵ Department of Pediatrics, Division of Pediatric Genetics, Acıbadem University, Istanbul, Turkey.
⁶ Department of Medical Genetics, Pamukkale University, Denizli, Turkey.

PMID: 37053206
DOI: 10.1002/ajmg.a.63207

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

REFERENCES

1. Amenta, S., Frangella, S., Marangi, G., Lattante, S., Ricciardi, S., Doronzio, P. N., Orteschi, D., Veredice, C., Contaldo, I., Zampino, G., Gentile, M., Scarano, E., Graziano, C., & Zollino, M. (2022). Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Journal of Medical Genetics, 59(2), 189-195. https://doi.org/10.1136/jmedgenet-2020-107225
1. Barone, C., Novelli, A., Capalbo, A., Del Grano, A. C., Giuffrida, M. G., Indaco, L., & Bianca, S. (2015). An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs. American Journal of Medical Genetics. Part A, 167(7), 1671-1673. https://doi.org/10.1002/ajmg.a.37054
1. Ciaccio, C., Dordoni, C., Ritelli, M., & Colombi, M. (2016). Koolen-de Vries syndrome: Clinical report of an adult and literature review. Cytogenetic and Genome Research, 150(1), 40-45. https://doi.org/10.1159/000452724
1. Digilio, M. C., Bernardini, L., Capolino, R., Digilio, M., Dentici, M. L., Novelli, A., & Dallapiccola, B. (2014). Hypopigmented skin patches in 17q21.31 microdeletion syndrome: Expanding the spectrum of cutaneous findings. Clinical Dysmorphology, 23(1), 32-34. https://doi.org/10.1097/MCD.0000000000000019
1. Dubourg, C., Sanlaville, D., Doco-Fenzy, M., Le Caignec, C., Missirian, C., Jaillard, S., Schluth-Bolard, C., Landais, E., Boute, O., Philip, N., Toutain, A., David, A., Edery, P., Moncla, A., Martin-Coignard, D., Vincent-Delorme, C., Mortemousque, I., Duban-Bedu, B., Drunat, S., … Andrieux, J. (2011). Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. European Journal of Medical Genetics, 54(2), 144-151. https://doi.org/10.1016/j.ejmg.2010.11.003

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[1] Amenta, S., Frangella, S., Marangi, G., Lattante, S., Ricciardi, S., Doronzio, P. N., Orteschi, D., Veredice, C., Contaldo, I., Zampino, G., Gentile, M., Scarano, E., Graziano, C., & Zollino, M. (2022). Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Journal of Medical Genetics, 59(2), 189-195. https://doi.org/10.1136/jmedgenet-2020-107225

[2] Amenta, S., Frangella, S., Marangi, G., Lattante, S., Ricciardi, S., Doronzio, P. N., Orteschi, D., Veredice, C., Contaldo, I., Zampino, G., Gentile, M., Scarano, E., Graziano, C., & Zollino, M. (2022). Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Journal of Medical Genetics, 59(2), 189-195. https://doi.org/10.1136/jmedgenet-2020-107225

[3] Barone, C., Novelli, A., Capalbo, A., Del Grano, A. C., Giuffrida, M. G., Indaco, L., & Bianca, S. (2015). An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs. American Journal of Medical Genetics. Part A, 167(7), 1671-1673. https://doi.org/10.1002/ajmg.a.37054

[4] Barone, C., Novelli, A., Capalbo, A., Del Grano, A. C., Giuffrida, M. G., Indaco, L., & Bianca, S. (2015). An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs. American Journal of Medical Genetics. Part A, 167(7), 1671-1673. https://doi.org/10.1002/ajmg.a.37054

[5] Ciaccio, C., Dordoni, C., Ritelli, M., & Colombi, M. (2016). Koolen-de Vries syndrome: Clinical report of an adult and literature review. Cytogenetic and Genome Research, 150(1), 40-45. https://doi.org/10.1159/000452724

[6] Ciaccio, C., Dordoni, C., Ritelli, M., & Colombi, M. (2016). Koolen-de Vries syndrome: Clinical report of an adult and literature review. Cytogenetic and Genome Research, 150(1), 40-45. https://doi.org/10.1159/000452724

[7] Digilio, M. C., Bernardini, L., Capolino, R., Digilio, M., Dentici, M. L., Novelli, A., & Dallapiccola, B. (2014). Hypopigmented skin patches in 17q21.31 microdeletion syndrome: Expanding the spectrum of cutaneous findings. Clinical Dysmorphology, 23(1), 32-34. https://doi.org/10.1097/MCD.0000000000000019

[8] Digilio, M. C., Bernardini, L., Capolino, R., Digilio, M., Dentici, M. L., Novelli, A., & Dallapiccola, B. (2014). Hypopigmented skin patches in 17q21.31 microdeletion syndrome: Expanding the spectrum of cutaneous findings. Clinical Dysmorphology, 23(1), 32-34. https://doi.org/10.1097/MCD.0000000000000019

[9] Dubourg, C., Sanlaville, D., Doco-Fenzy, M., Le Caignec, C., Missirian, C., Jaillard, S., Schluth-Bolard, C., Landais, E., Boute, O., Philip, N., Toutain, A., David, A., Edery, P., Moncla, A., Martin-Coignard, D., Vincent-Delorme, C., Mortemousque, I., Duban-Bedu, B., Drunat, S., … Andrieux, J. (2011). Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. European Journal of Medical Genetics, 54(2), 144-151. https://doi.org/10.1016/j.ejmg.2010.11.003

[10] Dubourg, C., Sanlaville, D., Doco-Fenzy, M., Le Caignec, C., Missirian, C., Jaillard, S., Schluth-Bolard, C., Landais, E., Boute, O., Philip, N., Toutain, A., David, A., Edery, P., Moncla, A., Martin-Coignard, D., Vincent-Delorme, C., Mortemousque, I., Duban-Bedu, B., Drunat, S., … Andrieux, J. (2011). Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. European Journal of Medical Genetics, 54(2), 144-151. https://doi.org/10.1016/j.ejmg.2010.11.003

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

Affiliations

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

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Abstract

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