The mutation spectrum in RECQL4 diseases

H. Annika Siitonen; Jenni Sotkasiira; Martine Biervliet; Abdelmadjid Benmansour; Yline Capri; Valerie Cormier-Daire; Barbara Crandall; Katariina Hannula-Jouppi; Raoul Hennekam; Denise Herzog; Kathelijn Keymolen; Marita Lipsanen-Nyman; Peter Miny; Sharon E. Plon; Stefan Riedl; Ajoy Sarkar; Fernando R. Vargas; Alain Verloes; Lisa L. Wang; Helena Kääriäinen; Marjo Kestilä

doi:10.1038/ejhg.2008.154

The mutation spectrum in RECQL4 diseases

H. Annika Siitonen
, Jenni Sotkasiira
, Martine Biervliet
, Abdelmadjid Benmansour
, Yline Capri
, Valerie Cormier-Daire
, Barbara Crandall
, Katariina Hannula-Jouppi
, Raoul Hennekam
, Denise Herzog
, Kathelijn Keymolen
, Marita Lipsanen-Nyman
, Peter Miny
, Sharon E. Plon
, Stefan Riedl
, Ajoy Sarkar
, Fernando R. Vargas
, Alain Verloes
, Lisa L. Wang
, Helena Kääriäinen

Marjo Kestilä

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data

Original language	English
Pages (from-to)	151-158
Journal	European journal of human genetics
Volume	17
Issue number	2
DOIs	https://doi.org/10.1038/ejhg.2008.154
Publication status	Published - 2009

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SDG 3 Good Health and Well-being

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10.1038/ejhg.2008.154

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Siitonen, H. A., Sotkasiira, J., Biervliet, M., Benmansour, A., Capri, Y., Cormier-Daire, V., Crandall, B., Hannula-Jouppi, K., Hennekam, R., Herzog, D., Keymolen, K., Lipsanen-Nyman, M., Miny, P., Plon, S. E., Riedl, S., Sarkar, A., Vargas, F. R., Verloes, A., Wang, L. L., ... Kestilä, M. (2009). The mutation spectrum in RECQL4 diseases. European journal of human genetics, 17(2), 151-158. https://doi.org/10.1038/ejhg.2008.154

@article{2a266a2954894078a6a77313f946c674,

title = "The mutation spectrum in RECQL4 diseases",

abstract = "Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420\_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data",

author = "Siitonen, \{H. Annika\} and Jenni Sotkasiira and Martine Biervliet and Abdelmadjid Benmansour and Yline Capri and Valerie Cormier-Daire and Barbara Crandall and Katariina Hannula-Jouppi and Raoul Hennekam and Denise Herzog and Kathelijn Keymolen and Marita Lipsanen-Nyman and Peter Miny and Plon, \{Sharon E.\} and Stefan Riedl and Ajoy Sarkar and Vargas, \{Fernando R.\} and Alain Verloes and Wang, \{Lisa L.\} and Helena K{\"a}{\"a}ri{\"a}inen and Marjo Kestil{\"a}",

year = "2009",

doi = "10.1038/ejhg.2008.154",

language = "English",

volume = "17",

pages = "151--158",

journal = "European journal of human genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

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}

Siitonen, HA, Sotkasiira, J, Biervliet, M, Benmansour, A, Capri, Y, Cormier-Daire, V, Crandall, B, Hannula-Jouppi, K, Hennekam, R, Herzog, D, Keymolen, K, Lipsanen-Nyman, M, Miny, P, Plon, SE, Riedl, S, Sarkar, A, Vargas, FR, Verloes, A, Wang, LL, Kääriäinen, H & Kestilä, M 2009, 'The mutation spectrum in RECQL4 diseases', European journal of human genetics, vol. 17, no. 2, pp. 151-158. https://doi.org/10.1038/ejhg.2008.154

TY - JOUR

T1 - The mutation spectrum in RECQL4 diseases

AU - Siitonen, H. Annika

AU - Sotkasiira, Jenni

AU - Biervliet, Martine

AU - Benmansour, Abdelmadjid

AU - Capri, Yline

AU - Cormier-Daire, Valerie

AU - Crandall, Barbara

AU - Hannula-Jouppi, Katariina

AU - Hennekam, Raoul

AU - Herzog, Denise

AU - Keymolen, Kathelijn

AU - Lipsanen-Nyman, Marita

AU - Miny, Peter

AU - Plon, Sharon E.

AU - Riedl, Stefan

AU - Sarkar, Ajoy

AU - Vargas, Fernando R.

AU - Verloes, Alain

AU - Wang, Lisa L.

AU - Kääriäinen, Helena

AU - Kestilä, Marjo

PY - 2009

Y1 - 2009

N2 - Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data

AB - Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data

U2 - 10.1038/ejhg.2008.154

DO - 10.1038/ejhg.2008.154

M3 - Article

C2 - 18716613

SN - 1018-4813

VL - 17

SP - 151

EP - 158

JO - European journal of human genetics

JF - European journal of human genetics

IS - 2

ER -

The mutation spectrum in RECQL4 diseases

Abstract

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