Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.

Münz M, Ruark E, Renwick A, et al.

Genome medicine 2015; (7()):76 doi:10.1186/s13073-015-0195-6.

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.

Ozer L, Unsal E, Aktuna S, et al.

Clinical dysmorphology 2016; (25(3)):91-7 doi:10.1097/MCD.0000000000000132.

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.

Galant D, Gaborit B, Desgrouas C, et al.

Cells 2016; (5(2)).

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.

Harhouri K, Navarro C, Baquerre C, et al.

Cells 2016; (5(3)).

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.

Brown RJ, Araujo-Vilar D, Cheung PT, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(12)):4500-4511 doi:10.1210/jc.2016-2466.

Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide.

Akinci B, Sankella S, Gilpin C, et al.

Cold Spring Harbor molecular case studies 2017; (3(1)):a001339 doi:10.1101/mcs.a001339.

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.

Sasaki H, Yanagi K, Ugi S, et al.

Endocrine journal 2018; (65(2)):227-238 doi:10.1507/endocrj.EJ17-0287.

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.

Cenni V, D'Apice MR, Garagnani P, et al.

Ageing research reviews 2018; (42()):1-13 doi:10.1016/j.arr.2017.12.001.

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

Hussain I, Patni N, Ueda M, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(3)):1005-1014 doi:10.1210/jc.2017-02078.

ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.

Spear ED, Hsu ET, Nie L, et al.

Disease models & mechanisms 2018; (11(7)) doi:10.1242/dmm.033670.

The Mitral Annulus Disjunction Arrhythmic Syndrome.

Dejgaard LA, Skjølsvik ET, Lie ØH, et al.

Journal of the American College of Cardiology 2018; (72(14)):1600-1609 doi:10.1016/j.jacc.2018.07.070.

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.

Hitzert MM, van der Crabben SN, Baldewsingh G, et al.

Orphanet journal of rare diseases 2019; (14(1)):294 doi:10.1186/s13023-019-1269-0.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Elouej S, Harhouri K, Le Mao M, et al.

Nature communications 2020; (11(1)):4589 doi:10.1038/s41467-020-18146-9.

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.

Hussain I, Jin RR, Baum HBA, et al.

Journal of the Endocrine Society 2020; (4(10)):bvaa104 doi:10.1210/jendso/bvaa104.

Mandibuloacral dysplasia type A in five tunisian patients.

R S, H M, M T, et al.

European journal of medical genetics 2021; (64(2)):104138 doi:10.1016/j.ejmg.2021.104138.

Mutations Involved in Premature-Ageing Syndromes.

Coppedè F

The application of clinical genetics 2021; (14()):279-295 doi:10.2147/TACG.S273525.

Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia.

Stefanescu Schmidt AC, Carreras ET, Gerhard-Herman MD, et al.

JACC. Case reports 2021; (3(6)):897-899 doi:10.1016/j.jaccas.2021.04.021.

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.

Jéru I, Nabil A, El-Makkawy G, et al.

Genes 2021; (12(10)) doi:10.3390/genes12101508.

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

Schaflinger E, Blatterer J, Khan AS, et al.

Gene 2022; (833()):146582 doi:10.1016/j.gene.2022.146582.

A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.

De Pasquale L, Meo P, Fulia F, et al.

Italian journal of pediatrics 2022; (48(1)):164 doi:10.1186/s13052-022-01356-w.

A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.

Yeter Doğan B, Günay N, Ada Y, Doğan ME

American journal of medical genetics. Part A 2023; (191(1)):173-182 doi:10.1002/ajmg.a.63010.

Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the ZMPSTE24 gene.

Wu DD, Li R, Li XN, et al.

Yi chuan = Hereditas 2022; (44(12)):1167-1174 doi:10.16288/j.yczz.22-117.

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Kaufmann L, Pilic J, Auinger L, et al.

Clinical genetics 2023; (104(4)):491-496 doi:10.1111/cge.14381.

Multi-omic analysis of mandibuloacral dysplasia type A patient iPSC-derived MSC senescence reveals miR-311 as a novel biomarker for MSC senescence.

He L, Liao J, Liu Z, et al.

Human molecular genetics 2023; (32(19)):2872-2886 doi:10.1093/hmg/ddad111.

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.

Odinammadu KO, Shilagardi K, Tuminelli K, et al.

Nucleus (Austin, Tex.) 2023; (14(1)):2288476 doi:10.1080/19491034.2023.2288476.

Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.

Fu X, Chen S, Huang X, et al.

Frontiers in endocrinology 2024; (15()):1345067 doi:10.3389/fendo.2024.1345067.

Mitral annular disjunction and mitral valve prolapse extrapolating adult data to an adolescent cohort?

Cohen MI, Atkins MB, Jordan CP

Current opinion in cardiology 2024; (39(4)):340-347 doi:10.1097/HCO.0000000000001141.

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.

Carvalho AA, Machado RA, Maia CMF, et al.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 2024; (42()):e2022189 doi:10.1590/1984-0462/2024/42/2022189.

Navigating Lipodystrophy: Insights from Laminopathies and Beyond.

Krüger P, Hartinger R, Djabali K

International journal of molecular sciences 2024; (25(15)) doi:10.3390/ijms25158020.

Disorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A.

Jin W, Jiang S, Liu X, et al.

Nature communications 2024; (15(1)):10046.

Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report.

Guo Y, Zhang X, Meng Y, et al.

Frontiers in cardiovascular medicine 2025; (12()):1657197 doi:10.3389/fcvm.2025.1657197.

A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.

Kındış E, Varol Ö

American journal of medical genetics. Part A 2026; (200(8)):1897-1900 doi:10.1002/ajmg.a.70149.

Life expectancy and causes of death in classical laminopathic progeroid syndromes: systematic review with individual-patient data synthesis.

López-Vila C, García-Cordeiro M, Estévez-Martínez L, et al.

Aging 2026; (18(1)):695-718 doi:10.18632/aging.206389.

Case Report: Novel rare ZMPSTE24 variation in a Han Chinese family with early onset mandibuloacral dysplasia type B lipodystrophy.

Xue S, Shi W, Zhang N, Hao L

Frontiers in endocrinology 2026; (17()):1941254 doi:10.3389/fendo.2026.1941254.