Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome

被引：0

作者：

Wei, Ruoying ^{[1
]}

Zhang, Kaihui ^{[2
]}

Liu, Chen ^{[3
]}

Wei, Xuxia ^{[4
]}

Jiang, Qin ^{[5
]}

Li, Ji-an ^{[6
]}

Huo, Meiling ^{[7
]}

Liu, Yinggang ^{[8
]}

Abdalla, Mohnad ^{[2
]}

Du, Li-an ^{[1
]}

Yang, Xiaomei ^{[1
]}

Li, Fu ^{[1
]}

机构：

[1] Shandong Univ, Jinan Childrens Hosp, Childrens Hosp, Hematol & Oncol Dept, Jinan, Peoples R China

[2] Shandong Univ, Jinan Childrens Hosp, Childrens Hosp, Pediat Res Inst, Jinan, Peoples R China

[3] Shandong Univ, Jinan Childrens Hosp, Childrens Hosp, Neonatol Dept, Jinan, Peoples R China

[4] Shandong Univ, Jinan Childrens Hosp, Childrens Hosp, Gastroenterol Dept, Jinan, Peoples R China

[5] Shandong Univ, Jinan Childrens Hosp, Childrens Hosp, Crit Care Med Dept, Jinan, Peoples R China

[6] Shandong Univ, Jinan Childrens Hosp, Childrens Hosp, Infect Dis Dept, Jinan, Peoples R China

[7] Shandong Univ, Jinan Childrens Hosp, Childrens Hosp, Endocrinol Dept, Jinan, Peoples R China

[8] Beijing Mygenost Med Lab, Beijing, Peoples R China

来源：

FRONTIERS IN GENETICS | 2025年 / 16卷

关键词：

Shwachman-Diamond syndrome; child; SBDS gene; myelodysplastic syndrome; bone marrow failure disorders; MARROW FAILURE SYNDROME; HEMATOLOGIC COMPLICATIONS; MOLECULAR PATHOPHYSIOLOGY; CLONAL HEMATOPOIESIS; SBDS; DIAGNOSIS; CHILDREN; CANCER; COHORT; EFL1;

D O I：

10.3389/fgene.2025.1603782

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose To investigate the clinical features and genetic mutation spectrum of 18 children with Shwachman-Diamond syndrome (SDS).Methods Data from 18 children with SDS at Shandong University Affiliated Children's Hospital (Ji'nan Children's Hospital) between April 2016 and June 2024 were retrospectively analyzed. Variant sites were confirmed by Sanger sequencing in family lines.Results Patients exhibited complex and diverse clinical symptoms, often involving multiple systems. The clinical features of this cohort included (1) early onset (median age: 1.5 months), diarrhea, trypsin reduction, neutropenia, and growth retardation and (2) high incidence of pancreatic imaging abnormalities, bone marrow hypoplasia, developmental malformations, and neurocognitive disorders. All patients had homozygous or compound heterozygous SBDS mutations, with 258+2T>C identified as the hotspot mutation (20/37), while 41A>T and 185A>C were newly discovered mutations.Conclusion Patients with SDS exhibit clinical heterogeneity, and this study enriches the SBDS gene mutation spectrum. Genetic testing is valuable for early diagnosis.

引用

页数：13

共 45 条

[1] Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up [J].

Alter, Blanche P. ;

Giri, Neelam ;

Savage, Sharon A. ;

Rosenberg, Philip S. .

HAEMATOLOGICA, 2018, 103 (01) :30-39

[2] SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information [J].

Biasini, Marco ;

Bienert, Stefan ;

Waterhouse, Andrew ;

Arnold, Konstantin ;

Studer, Gabriel ;

Schmidt, Tobias ;

Kiefer, Florian ;

Cassarino, Tiziano Gallo ;

Bertoni, Martino ;

Bordoli, Lorenza ;

Schwede, Torsten .

NUCLEIC ACIDS RESEARCH, 2014, 42 (W1) :W252-W258

[3] Somatic development in children with Shwachman-Diamond syndrome [J].

Bogusz-Wojcik, Agnieszka ;

Kolodziejczyk, Honorata ;

Klaudel-Dreszler, Maja ;

Oracz, Grzegorz ;

Pawlowska, Joanna ;

Szalecki, Mieczyslaw .

ITALIAN JOURNAL OF PEDIATRICS, 2020, 46 (01)

[4] Mutations in SBDS are associated with Shwachman-Diamond syndrome [J].

Boocock, GRB ;

Morrison, JA ;

Popovic, M ;

Richards, N ;

Ellis, L ;

Durie, PR ;

Rommens, JM .

NATURE GENETICS, 2003, 33 (01) :97-101

[5]

Bowers K. J., 2006, P 2006 ACMIEEE C SUP, P84

[6] The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes [J].

Cada, Michaela ;

Segbefia, Catherin I. ;

Klaassen, Robert ;

Fernandez, Conrad V. ;

Yanofsky, Rochelle A. ;

Wu, John ;

Pastore, Yves ;

Silva, Mariana ;

Lipton, Jeffrey H. ;

Brossard, Josee ;

Michon, Bruno ;

Abish, Sharon ;

Steele, MacGregor ;

Sinha, Roona ;

Belletrutti, Mark ;

Breakey, Vicky ;

Jardine, Lawrence ;

Goodyear, Lisa ;

Sung, Lillian ;

Shago, Mary ;

Beyene, Joseph ;

Sharma, Preeti ;

Zlateska, Bozana ;

Dror, Yigal .

HAEMATOLOGICA, 2015, 100 (05) :633-642

[7] Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features [J].

Carapito, Raphael ;

Konantz, Martina ;

Paillard, Catherine ;

Miao, Zhichao ;

Pichot, Angelique ;

Leduc, Magalie S. ;

Yang, Yaping ;

Bergstrom, Katie L. ;

Mahoney, Donald H. ;

Shardy, Deborah L. ;

Alsaleh, Ghada ;

Naegely, Lydie ;

Kolmer, Aline ;

Paul, Nicodeme ;

Hanauer, Antoine ;

Rolli, Veronique ;

Mueller, Joelle S. ;

Alghisi, Elisa ;

Sauteur, Loic ;

Macquin, Cecile ;

Morlon, Aurore ;

Sancho, Consuelo Sebastia ;

Amati-Bonneau, Patrizia ;

Procaccio, Vincent ;

Mosca-Boidron, Anne-Laure ;

Marle, Nathalie ;

Osmani, Nael ;

Lefebvre, Olivier ;

Goetz, Jacky G. ;

Unal, Sule ;

Akarsu, Nurten A. ;

Radosavljevic, Mirjana ;

Chenard, Marie-Pierre ;

Rialland, Fanny ;

Grain, Audrey ;

Bene, Marie-Christine ;

Eveillard, Marion ;

Vincent, Marie ;

Guy, Julien ;

Faivre, Laurence ;

Thauvin-Robinet, Christel ;

Thevenon, Julien ;

Myers, Kasiani ;

Fleming, Mark D. ;

Shimamura, Akiko ;

Bottollier-Lemallaz, Elodie ;

Westhof, Eric ;

Lengerke, Claudia ;

Isidor, Bertrand ;

Bahram, Seiamak .

JOURNAL OF CLINICAL INVESTIGATION, 2017, 127 (11) :4090-4103

[8] A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome [J].

Cesaro, Simone ;

Pegoraro, Anna ;

Sainati, Laura ;

Lucidi, Vincenzina ;

Montemitro, Enza ;

Corti, Paola ;

Ramenghi, Ugo ;

Nasi, Cristina ;

Menna, Giuseppe ;

Zecca, Marco ;

Danesino, Cesare ;

Nicolis, Elena ;

Pasquali, Francesco ;

Perobelli, Sandra ;

Tridello, Gloria ;

Farruggia, Piero ;

Cipolli, Marco .

JOURNAL OF PEDIATRICS, 2020, 219 :196-+

[9]

Chinese Society of Gastrointestinal Surgery, 2024, Chin. J. Pract. Surg, V44, P121, DOI [10.19538/j.cjps.issn1005-2208.2024.02.01, DOI 10.19538/J.CJPS.ISSN1005-2208.2024.02.01]

[10] The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data [J].

Delaporta, Polyxeni ;

Sofocleous, Christalena ;

Economou, Marina ;

Makis, Alexandros ;

Kostaridou, Stavroula ;

Kattamis, Antonis .

PEDIATRIC BLOOD & CANCER, 2017, 64 (11)

← 1 2 3 4 5 →