Whole-exome sequencing revealed a novel ERCC8 variant in an Iranian large family with Cockayne syndrome

被引：0

作者：

Ashrafzadeh, Hamidreza ^{[1
]}

Tafvizi, Farzaneh ^{[1
]}

Ghasemi, Nasrin ^{[2
]}

Mehrjardi, Mohammad Yahya Vahidi ^{[3
]}

Naseh, Vahid ^{[1
]}

机构：

[1] Islamic Azad Univ, Dept Biol, Parand Branch, Parand, Iran

[2] Shahid Sadoughi Univ Med Sci, Yazd Reprod Sci Inst, Abort Res Ctr, Yazd, Iran

[3] Shahid Sadoughi Univ Med Sci, Diabet Res Ctr, Yazd, Iran

来源：

HUMAN GENE | 2024年 / 39卷

关键词：

Cockayne syndrome; ERCC8; Whole exome sequencing; Nucleotide excision repair; PROTEINS; DNA; CSA; PATIENT; REPAIR; UV;

D O I：

10.1016/j.humgen.2024.201261

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Cockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. The excision repair cross complementing protein group 6 (ERCC8) gene, which codes for the CS group A (CSA) protein, is usually mutated in cases of CS. Method: We show two Iranian families who have significant speech delay, microcephaly, developmental delay, and notable growth failure. We have discovered a unique homozygous missense variant (c.742G > T) in CSA in an Iranian family with CS, which we discovered using whole exome sequencing as well. Results: In two related probands, we found a homozygous variant (c.742G > T) in the ERCC8 gene that we believe to be a unique pathogenic mutation. Conclusion: WES results together with the characteristic clinical manifestations of Cockayne syndrome, provided an accurate diagnosis for two families. Also, our study identified novel variants in Iranian families.

引用

页数：4

共 17 条

[1] Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome [J].

Calmels, Nadege ;

Botta, Elena ;

Jia, Nan ;

Fawcett, Heather ;

Nardo, Tiziana ;

Nakazawa, Yuka ;

Lanzafame, Manuela ;

Moriwaki, Shinichi ;

Sugita, Katsuo ;

Kubota, Masaya ;

Obringer, Cathy ;

Spitz, Marie-Aude ;

Stefanini, Miria ;

Laugel, Vincent ;

Orioli, Donata ;

Ogi, Tomoo ;

Lehmann, Alan Robert .

JOURNAL OF MEDICAL GENETICS, 2018, 55 (05) :329-343

[2] Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing [J].

Calmels, Nadege ;

Greff, Geraldine ;

Obringer, Cathy ;

Kempf, Nadine ;

Gasnier, Claire ;

Tarabeux, Julien ;

Miguet, Marguerite ;

Baujat, Genevieve ;

Bessis, Didier ;

Bretones, Patricia ;

Cavau, Anne ;

Digeon, Beatrice ;

Doco-Fenzy, Martine ;

Doray, Berenice ;

Feillet, Francois ;

Gardeazabal, Jesus ;

Gener, Blanca ;

Julia, Sophie ;

Llano-Rivas, Isabel ;

Mazur, Artur ;

Michot, Caroline ;

Renaldo-Robin, Florence ;

Rossi, Massimiliano ;

Sabouraud, Pascal ;

Keren, Boris ;

Depienne, Christel ;

Muller, Jean ;

Mandel, Jean-Louis ;

Laugel, Vincent .

ORPHANET JOURNAL OF RARE DISEASES, 2016, 11

[3] Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome [J].

Chatre, Laurent ;

Biard, Denis S. F. ;

Sarasin, Alain ;

Ricchetti, Miria .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015, 112 (22) :E2910-E2919

[4] RETRACTED: Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo (Retracted article. See vol. 81, pg. 5112, 2021) [J].

Fousteri, Maria ;

Vermeulen, Wim ;

van Zeeland, Albert A. ;

Mullenders, Leon H. F. .

MOLECULAR CELL, 2006, 23 (04) :471-482

[5] The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome [J].

Frosina, Guido .

FREE RADICAL BIOLOGY AND MEDICINE, 2007, 43 (02) :165-177

[6] Dermatologic Findings in 16 Patients With Cockayne Syndrome and Cerebro-Oculo-Facial-Skeletal Syndrome [J].

Frouin, Eric ;

Laugel, Vincent ;

Durand, Myriam ;

Dollfus, Helene ;

Lipsker, Dan .

JAMA DERMATOLOGY, 2013, 149 (12) :1414-1418

[7] The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage [J].

Groisman, R ;

Polanowska, J ;

Kuraoka, I ;

Sawada, J ;

Saijo, M ;

Drapkin, R ;

Kisselev, AF ;

Tanaka, K ;

Nakatani, Y .

CELL, 2003, 113 (03) :357-367

[8] Cockayne syndrome: Clinical features, model systems and pathways [J].

Karikkineth, Ajoy C. ;

Scheibye-Knudsen, Morten ;

Fivenson, Elayne ;

Croteau, Deborah L. ;

Bohr, Vilhelm A. .

AGEING RESEARCH REVIEWS, 2017, 33 :3-17

[9] Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome [J].

Laugel, V. ;

Dalloz, C. ;

Durand, M. ;

Sauvanaud, F. ;

Kristensen, U. ;

Vincent, M. C. ;

Pasquier, L. ;

Odent, S. ;

Cormier-Daire, V. ;

Gener, B. ;

Tobias, E. S. ;

Tolmie, J. L. ;

Martin-Coignard, D. ;

Drouin-Garraud, V. ;

Heron, D. ;

Journel, H. ;

Raffo, E. ;

Vigneron, J. ;

Lyonnet, S. ;

Murday, V. ;

Gubser-Mercati, D. ;

Funalot, B. ;

Brueton, L. ;

Sanchez del Pozo, J. ;

Munoz, E. ;

Gennery, A. R. ;

Salih, M. ;

Noruzinia, M. ;

Prescott, K. ;

Ramos, L. ;

Stark, Z. ;

Fieggen, K. ;

Chabrol, B. ;

Sarda, P. ;

Edery, P. ;

Bloch-Zupan, A. ;

Fawcett, H. ;

Pham, D. ;

Egly, J. M. ;

Lehmann, A. R. ;

Sarasin, A. ;

Dollfus, H. .

HUMAN MUTATION, 2010, 31 (02) :113-126

[10] WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases [J].

Li, D ;

Roberts, R .

CELLULAR AND MOLECULAR LIFE SCIENCES, 2001, 58 (14) :2085-2097

← 1 2 →