Research & Literature

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.

Marjanović M, Sánchez-Huertas C, Terré B, et al.

Nature communications 2015; (6()):7676 doi:10.1038/ncomms8676.

Mutations in CDK5RAP2 cause Seckel syndrome.

Yigit G, Brown KE, Kayserili H, et al.

Molecular genetics & genomic medicine 2015; (3(5)):467-80 doi:10.1002/mgg3.158.

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.

Grandone A, Torella A, Santoro C, et al.

Clinical genetics 2016; (90(5)):445-450 doi:10.1111/cge.12771.

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

Nair P, Hamzeh AR, Mohamed M, et al.

American journal of medical genetics. Part A 2016; (170(8)):2127-32 doi:10.1002/ajmg.a.37766.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Bober MB, Jackson AP

Current osteoporosis reports 2017; (15(2)):61-69 doi:10.1007/s11914-017-0348-1.

Consequences of Centrosome Dysfunction During Brain Development.

Nano M, Basto R

Advances in experimental medicine and biology 2017; (1002()):19-45 doi:10.1007/978-3-319-57127-0_2.

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Dinçer T, Yorgancıoğlu-Budak G, Ölmez A, et al.

European journal of human genetics : EJHG 2017; (25(10)):1118-1125 doi:10.1038/ejhg.2017.120.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Farach LS, Little ME, Duker AL, et al.

American journal of medical genetics. Part A 2018; (176(2)):465-469 doi:10.1002/ajmg.a.38581.

Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature.

Akkurt MO, Pakay K, Akkurt I, et al.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019; (32(11)):1905-1908 doi:10.1080/14767058.2017.1419467.

The relationship between alkaline phosphatase and bone alkaline phosphatase activity and the growth hormone/insulin-like growth factor-1 axis and vitamin D status in children with growth hormone deficiency.

Witkowska-Sędek E, Stelmaszczyk-Emmel A, Majcher A, et al.

Acta biochimica Polonica 2018; (65(2)):269-275 doi:10.18388/abp.2017_2541.

Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report.

Gunesli A, Andic C, Alkan O, et al.

Journal of pediatric neurosciences 2018; (13(2)):245-248 doi:10.4103/jpn.JPN_96_17.

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome.

Llorens-Agost M, Luessing J, van Beneden A, et al.

Human mutation 2018; (39(12)):1847-1853 doi:10.1002/humu.23648.

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R, Maddirevula S, Ewida N, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(3)):545-552 doi:10.1038/s41436-018-0140-3.

An anesthetic experience in a patient with Seckel syndrome: A case report.

Choi JB, Kang SY, Kil HK

Korean journal of anesthesiology 2009; (56(2)):204-207 doi:10.4097/kjae.2009.56.2.204.

Anesthetic experience of a pediatric patient with Seckel syndrome associated with pneumonia : A case report.

Kim TH, Kim YU, Song JG, Hwang JH

Korean journal of anesthesiology 2009; (56(6)):717-719 doi:10.4097/kjae.2009.56.6.717.

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model.

Ichisima J, Suzuki NM, Samata B, et al.

Journal of human genetics 2019; (64(5)):445-458 doi:10.1038/s10038-019-0574-8.

[Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome].

Hong L, Liu J, Wu B

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(6)):595-597 doi:10.3760/cma.j.issn.1003-9406.2019.06.016.

Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.

Alrajhi H, Alallah J, Shawli A, et al.

BMJ case reports 2019; (12(5)) doi:10.1136/bcr-2018-224197.

The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso).

Ouattara ABI, Barro M, Nacro SF, et al.

Pediatric reports 2020; (12(1)):8231 doi:10.4081/pr.2020.8231.

Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review.

Monteiro A, Cortez GM, Granja MF, et al.

Journal of neurointerventional surgery 2021; (13(2)):171-176 doi:10.1136/neurintsurg-2020-016069.

A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review.

Saeidi M, Shahbandari M

International medical case reports journal 2020; (13()):159-163 doi:10.2147/IMCRJ.S241601.

NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS.

Fredette ME, Lombardi KC, Duker AL, et al.

AACE clinical case reports 2020; (6(1)):e1-e4 doi:10.4158/ACCR-2019-0283.

Growth in individuals with Saul-Wilson syndrome.

Ferreira CR, Niiler T, Duker AL, et al.

American journal of medical genetics. Part A 2020; (182(9)):2110-2116 doi:10.1002/ajmg.a.61754.

A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).

Dehghan Tezerjani M, Vahidi Mehrjardi MY, Hozhabri H, Rahmanian M

Frontiers in pediatrics 2020; (8()):340 doi:10.3389/fped.2020.00340.

Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of ATRIP-Seckel syndrome.

Matos-Rodrigues GE, Tan PB, Rocha-Martins M, et al.

Disease models & mechanisms 2020; (13(10)) doi:10.1242/dmm.045807.

Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.

Hagiwara H, Matsumoto H, Uematsu K, et al.

Brain & development 2021; (43(2)):337-342 doi:10.1016/j.braindev.2020.09.007.

Pulmonary hypertensive crisis: A potential reason for right ventricle and pacemaker lead failure.

Aydemir MM, Kafali HC, Gemici H, et al.

Pacing and clinical electrophysiology : PACE 2021; (44(2)):402-405 doi:10.1111/pace.14103.

ATRIP protects progenitor cells against DNA damage in vivo.

Matos-Rodrigues GE, Grigaravicius P, Lopez BS, et al.

Cell death & disease 2020; (11(10)):923 doi:10.1038/s41419-020-03090-9.

Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.

Martín-Rivada Á, Pozo-Román J, Güemes M, et al.

Hormone research in paediatrics 2020; (93(9-10)):567-572 doi:10.1159/000514280.

Seckel syndrome presenting with complete heart block.

Abohelwa M, Elmassry M, Iskandir M, et al.

Proceedings (Baylor University. Medical Center) 2021; (34(3)):405-406 doi:10.1080/08998280.2020.1871265.

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.

Duker AL, Kinderman D, Jordan C, et al.

Orphanet journal of rare diseases 2021; (16(1)):231 doi:10.1186/s13023-021-01852-y.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Makhdoom EUH, Waseem SS, Iqbal M, et al.

Genes 2021; (12(5)) doi:10.3390/genes12050731.

ATR regulates neuronal activity by modulating presynaptic firing.

Kirtay M, Sell J, Marx C, et al.

Nature communications 2021; (12(1)):4067 doi:10.1038/s41467-021-24217-2.

Siblings With Familial Dwarfism Presenting With Acute Myocardial Infarction at Adolescence.

Chung H, Kim SY, Kang J, et al.

JACC. Case reports 2021; (3(5)):795-800 doi:10.1016/j.jaccas.2021.03.015.

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.

Khojah O, Alamoudi S, Aldawsari N, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2021; (37(12)):3847-3860 doi:10.1007/s00381-021-05284-8.

Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.

Donmez YN, Giray D, Epcacan S, et al.

Cardiology in the young 2022; (32(3)):487-490 doi:10.1017/S1047951121003097.

Secondary Childhood glaucoma - a rare association in Seckel syndrome.

Pillai MR, Pallamparthy S, Gnanavelu S

European journal of ophthalmology 2021; 11206721211060949 doi:10.1177/11206721211060949.

Prevalence of Developmental Dental Anomalies of Number and Size in Indian Population According to Age and Gender.

Jain A, Saxena A, Jain S, et al.

International journal of clinical pediatric dentistry 2021; (14(4)):531-536 doi:10.5005/jp-journals-10005-1980.

A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II).

Eslava A, Garcia-Puig M, Corripio R

The American journal of case reports 2021; (22()):e933919 doi:10.12659/AJCR.933919.

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Nerakh G, Vineeth VS, Tallapaka K, et al.

American journal of medical genetics. Part A 2022; (188(7)):2139-2146 doi:10.1002/ajmg.a.62725.

A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.

Yadav N, Kirola L, Geetha TS, et al.

Annals of human genetics 2022; (86(5)):245-256 doi:10.1111/ahg.12469.

Association Between Recombinant Growth Hormone Therapy and All-Cause Mortality and Cancer Risk in Childhood: Systematic Review and Meta-Analysis.

He M, Deng X, Wang X, et al.

Frontiers in pediatrics 2022; (10()):866295 doi:10.3389/fped.2022.866295.

Hydranencephaly in CENPJ-related Seckel syndrome.

Cuccurullo C, Miele G, Piccolo G, et al.

European journal of medical genetics 2022; (65(12)):104659 doi:10.1016/j.ejmg.2022.104659.

Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.

Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G

American journal of medical genetics. Part A 2023; (191(7)):1929-1934 doi:10.1002/ajmg.a.63200.

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report.

Mudassir BU, Agha Z

Children (Basel, Switzerland) 2023; (10(6)) doi:10.3390/children10061027.

Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.

Alavi S, Khalili M, Mirmoghaddam P, et al.

Clinical case reports 2024; (12(5)):e8871 doi:10.1002/ccr3.8871.

Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.

Tatiya N, Kesri R, Ukey A

International journal of clinical pediatric dentistry 2024; (17(2)):211-215 doi:10.5005/jp-journals-10005-2765.

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Jurca AD, Petchesi CD, Jurca S, et al.

Medicina (Kaunas, Lithuania) 2024; (60(11)) doi:10.3390/medicina60111906.

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.

Duthoo E, Beyls E, Backers L, et al.

The Journal of experimental medicine 2025; (222(5)) doi:10.1084/jem.20241432.

Early Cardiovascular and Metabolic Benefits of rhGH Therapy in Adult Patients with Severe Growth Hormone Deficiency: Impact on Oxidative Stress Parameters.

Kościuszko M, Buczyńska A, Hryniewicka J, et al.

International journal of molecular sciences 2025; (26(12)) doi:10.3390/ijms26125434.

ST-Elevation Myocardial Infarction (STEMI) in a Morphologically Pediatric Adult With Seckel Syndrome: A Report of a Rare Case.

Qasem AG, Al-Nahhas OF, Albeshr MA, Al Shouha T

Cureus 2025; (17(9)):e93458 doi:10.7759/cureus.93458.

Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH-SCKS in a Chinese pregnant woman across two consecutive pregnancies.

Zhang T, Yuan H, Shi X, et al.

Frontiers in genetics 2025; (16()):1646297 doi:10.3389/fgene.2025.1646297.

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].

Hong L, Chen R

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2026; (43(1)):76-80 doi:10.3760/cma.j.cn511374-20251016-00609.

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Gong Y, Jiang M, Wu S, et al.

Frontiers in endocrinology 2026; (17()):1755251 doi:10.3389/fendo.2026.1755251.