ArticleJournal of medical genetics2009
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.
Article in Journal of medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 41 citations in OpenAlex.
- Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.European journal of human genetics : EJHG · 2025Article
- Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.Clinical genetics · 2025Review
- Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.Human genetics · 2024Article
- Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.HGG advances · 2022Article
- Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.Journal of medical genetics · 2021Article
- Etiological diagnosis in limb reduction defects and the number of affected limbs: A population-based study in the Northern Netherlands.American journal of medical genetics. Part A · 2020Article
- A multidisciplinary review of triphalangeal thumb.The Journal of hand surgery, European volume · 2019Review
- Preaxial polydactyly of the foot.Acta orthopaedica · 2018Review
- Defective Hand1 phosphoregulation uncovers essential roles for Hand1 in limb morphogenesis.Development (Cambridge, England) · 2017Article
- The two domain hypothesis of limb prepattern and its relevance to congenital limb anomalies.Wiley interdisciplinary reviews. Developmental biology · 2017Review
- A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.Saudi medical journal · 2015Article
- New insights into genotype-phenotype correlation for GLI3 mutations.European journal of human genetics : EJHG · 2015Article
- Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.PloS one · 2014Article
- Article
- A transgenic, mesodermal specific, Dkk1 mouse model recapitulates a spectrum of human congenital limb reduction defects.Differentiation; research in biological diversity · 2012Article
- Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.BMC medical genetics · 2012Article
- Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Human mutation · 2010Article
- Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".Current gastroenterology reports · 2010Review
- Sporadic familial ulnar hexadactyly of all four limbs.Journal of dermatological case reports · 2010Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundCongenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists. The authors aimed to characterise causative mutations in an unselected cohort of patients with CLMs requiring reconstructive surgery.
methods202 patients presenting with CLM were recruited. The authors obtained G-banded karyotypes and screened EN1, GLI3, HAND2, HOXD13, ROR2, SALL1, SALL4, ZRS of SHH, SPRY4, TBX5, TWIST1 and WNT7A for point mutations using denaturing high performance liquid chromatography (DHPLC) and direct sequencing. Multiplex ligation dependent probe amplification (MLPA) kits were developed and used to measure copy number in GLI3, HOXD13, ROR2, SALL1, SALL4, TBX5 and the ZRS of SHH.
resultsWithin the cohort, causative genetic alterations were identified in 23 patients (11%): mutations in GLI3 (n = 5), HOXD13 (n = 5), the ZRS of SHH (n = 4), and chromosome abnormalities (n = 4) were the most common lesions found. Clinical features that predicted the discovery of a genetic cause included a bilateral malformation, positive family history, and having increasing numbers of limbs affected (all p<0.01). Additionally, specific patterns of malformation predicted mutations in specific genes.
conclusionsBased on higher mutation prevalence the authors propose that GLI3, HOXD13 and the ZRS of SHH should be prioritised for introduction into molecular genetic testing programmes for CLM. The authors have developed simple criteria that can refine the selection of patients by surgeons for referral to clinical geneticists. The cohort also represents an excellent resource to test for mutations in novel candidate genes.
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