ArticleJournal of human genetics2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- "Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".Acta neurologica Belgica · 2025Article
- A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant.Orthopaedic surgery · 2025Article
- Expert consensus on classification and diagnosis of congenital orofacial cleft.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2025Article
- Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.European journal of pain (London, England) · 2025Article
- Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.BMC pediatrics · 2023Review
- Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.Intractable & rare diseases research · 2023Article
- Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.Human genetics · 2023Article
- Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.Biomedicines · 2023Article
- UVB mutagenesis differs inLife science alliance · 2021Article
- Review
- Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.BMC medical genetics · 2020Article
- FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.BMC medical genetics · 2018Article
- Article
- Craniofacial and Dental Manifestations of Melnick-Needles Syndrome: Literature Review and Orthodontic Management.Case reports in pediatrics · 2018Article
Corrections and comments
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Authors and funding
34 authors at 16 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. These syndromes variably associate specific facial and extremities features, hearing loss, cleft palate, skeletal dysplasia and several malformations, and show important clinical overlap over the different entities. FLNA gain-of-function mutations were identified in these conditions. FLNA encodes filamin A, a scaffolding actin-binding protein. Here, we report phenotypic descriptions and molecular results of FLNA analysis in a large series of 27 probands hypothesized to be affected by OPDSD. We identified 11 different missense mutations in 15 unrelated probands (n=15/27, 56%), of which seven were novel, including one of unknown significance. Segregation analyses within families made possible investigating 20 additional relatives carrying a mutation. This series allows refining the phenotypic and mutational spectrum of FLNA mutations causing OPDSD, and providing suggestions to avoid the overdiagnosis of OPD1.
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