Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.

Total: 20

(per page)

PMID (PMCID)
29706645	FEMALE	Young Adult
	Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.
	Tucker EJ, Grover SR, Robevska G, van den Bergen J, Hanna C, Sinclair AH. Eur J Hum Genet. 2018;26(9):1319-1328.
	Recessive function-altering NBN variants typically cause Nijmegen breakage syndrome characterized by microcephaly, cancer predisposition, and immunodeficiency, none of which are evident in the patient.
24428841 (3898043)	OTHER
	An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma.
	Engel K, Rudelius M, Meinel FG, Peschel C, Keller U. BMC Hematol. 2014;14(1):2.
	Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder characterized by immune deficiency, microcephaly, mental retardation and a disposition for the development of hematological malignancies.
24044622 (3849883)	FEMALE	Child
	Nijmegen breakage syndrome and chronic polyarthritis.
	Pasic S, Cupic M, Jovanovic T, Djukic S, Kavaric M, Lazarevic I. Ital J Pediatr. 2013;39:59.
	We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis.
21227757	MIXED_SAMPLE	Infant
	Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
	Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S. DNA Repair (Amst). 2011;10(3):314-21.
	Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and mental retardation, and cellular radiosensitivity.
21227757	MIXED_SAMPLE	Infant
	Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
	Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S. DNA Repair (Amst). 2011;10(3):314-21.
	Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
19105185	MIXED_SAMPLE	Adult
	Fertility defects revealing germline biallelic nonsense NBN mutations.
	Warcoin M, Lespinasse J, Despouy G, Dubois d'Enghien C, Lauge A, Portnoi MF, Christin-Maitre S, Stoppa-Lyonnet D, Stern MH. Hum Mutat. 2009;30(3):424-30.
	Biallelic mutations in the NBN/NBS1 gene are the cause of Nijmegen breakage syndrome (NBS), a severe pediatric disease characterized by dysmorphy with a bird-like face, microcephaly, growth retardation, immune deficiency, and proneness to cancer.
19125088	FEMALE
	Successful treatment of hodgkin lymphoma in nijmegen breakage syndrome.
	Jovanovic A, Minic P, Scekic-Guc M, Djuricic S, Cirkovic S, Weemaes C, Pasic S. J Pediatr Hematol Oncol. 2009;31(1):49-52.
	Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder characterized by microcephaly, immunodeficiency, and predisposition to malignancy.
18186968	MALE
	Successful treatment of diffuse large B-cell non-hodgkin lymphoma with modified CHOP (cyclophosphamide/doxorubicin/vincristine/prednisone) chemotherapy and rituximab in a patient with Nijmegen syndrome.
	Dumic M, Radman I, Krnic N, Nola M, Kusec R, Begovic D, Labar B, Rados M. Clin Lymphoma Myeloma. 2007;7(9):590-3.
	Nijmegen breakage syndrome is characterized by microcephaly, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly lymphoma.
16415040	FEMALE	Middle Aged
	Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
	Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stockl L, Spadoni E, Kruger LA, di Masi A, Sperling K, Digweed M, Maraschio P. Hum Mol Genet. 2006;15(5):679-89.
	Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), characterized by microcephaly, chromosomal instability, radiosensitivity, immunodeficiency and high cancer predisposition.
16088910	MALE
	A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
	Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. Am J Med Genet A. 2005;137A(3):283-7.
	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.
15339696	FEMALE
	T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome.
	Pasic S, Vujic D, Fiorini M, Notarangelo LD. Haematologica. 2004;89(8):ECR27.
	Nijmegen breakage syndrome (NBS) is a rare autosomal-recessive disorder characterized by microcephaly, immunodeficiency and predisposition to cancer, mainly B-cell lymphomas.
15451479	MIXED_SAMPLE	Infant, Newborn
	The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.
	Gennery AR, Slatter MA, Bhattacharya A, Barge D, Haigh S, O'Driscoll M, Coleman R, Abinun M, Flood TJ, Cant AJ, Jeggo PA. Clin Immunol. 2004;113(2):214-9.
	Nijmegen Breakage Syndrome (NBS) is a related disorder that shares overlapping clinical features, principally, developmental delay, microcephaly, and cancer predisposition.
12621246	MALE
	Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.
	Bakhshi S, Cerosaletti KM, Concannon P, Bawle EV, Fontanesi J, Gatti RA, Bhambhani K. J Pediatr Hematol Oncol. 2003;25(3):248-51.
	Because irradiation is an important component of therapy for brain tumors, caution should be exercised in cancer patients with associated microcephaly and growth retardation, as they may turn out to have the rare diagnosis of Nijmegen breakage syndrome.
12621246	MALE
	Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.
	Bakhshi S, Cerosaletti KM, Concannon P, Bawle EV, Fontanesi J, Gatti RA, Bhambhani K. J Pediatr Hematol Oncol. 2003;25(3):248-51.
	The presence of radiation sensitivity, both clinically and ex vivo, in association with microcephaly and growth retardation, prompted a diagnostic workup for Nijmegen breakage syndrome.
11427422	MALE	Child
	Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.
	Garcia-Perez MA, Allende LM, Corell A, Paz-Artal E, Varela P, Lopez-Goyanes A, Garcia-Martin F, Vazquez R, Sotoca A, Arnaiz-Villena A. Clin Diagn Lab Immunol. 2001;8(4):757-61.
	Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by immunodeficiency, microcephaly, and "bird-like" facies.
10742414	MALE	Child
	Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: case report.
	Paulli M, Viglio A, Boveri E, Pitino A, Lucioni M, Franco C, Riboni R, Rosso R, Magrini U, Marseglia GL, Marchi A. Pediatr Dev Pathol. 2000;3(3):264-70.
	first described the Nijmegen breakage syndrome (NBS), a rare autosomal recessive disorder characterized by stunted growth, microcephaly, immunodeficiency, spontaneous chromosome instability, and a peculiar predisposition to cancer development.
8554361	MIXED_SAMPLE	Infant, Newborn
	Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome.
	Green AJ, Yates JR, Taylor AM, Biggs P, McGuire GM, McConville CM, Billing CJ, Barnes ND. Arch Dis Child. 1995;73(5):431-4.
	A brother and sister are described with severe microcephaly of prenatal onset, normal intellectual and motor development, chromosomal breakage and cellular immunodeficiency, which is characteristic of the autosomal recessive condition, Nijmegen breakage syndrome.
8554361	MIXED_SAMPLE	Infant, Newborn
	Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome.
	Green AJ, Yates JR, Taylor AM, Biggs P, McGuire GM, McConville CM, Billing CJ, Barnes ND. Arch Dis Child. 1995;73(5):431-4.
	Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome.
1613764	MALE	Child
	Unusual T cell clones in a patient with Nijmegen breakage syndrome.
	Stoppa-Lyonnet D, Girault D, LeDeist F, Aurias A. J Med Genet. 1992;29(2):136-7.
	The rare autosomal recessive Nijmegen breakage syndrome is characterised by severe immunodeficiency, microcephaly associated with mental retardation, and typical chromosomal rearrangements in peripheral T lymphocytes.
2491181	MIXED_SAMPLE	Child
	ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.
	Curry CJ, O'Lague P, Tsai J, Hutchison HT, Jaspers NG, Wara D, Gatti RA, Hutchinson HT. Am J Hum Genet. 1989;45(2):270-5.
	Complementation was observed with patients in ataxia-telangiectasia complementation groups A, C, and E but not with the cell line from a patient with the Nijmegen breakage syndrome, in which patients have microcephaly, radio-resistant DNA synthesis, chromosome aberrations, and immunodeficiency but lack ataxia and telangiectasia.