ArticleAmerican journal of medical genetics. Part A2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- A gene-centric study of common carotid artery remodelling.Atherosclerosis · 2013Pooled it
- Detection of a complex chromosomal rearrangement in a novel mouse mutant by optical genome mapping.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- 1q25.3-q32.1 deletion causing multisystem developmental delay: a case report and literature review.Frontiers in pediatrics · 2026Article
- Long Non-coding RNA DNM3OS: Pathogenic Roles and Molecular Mechanisms in Pathophysiological Processes.Current medicinal chemistry · 2024Review
- Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Identification and functional analysis of novelFrontiers in genetics · 2022Article
- Deletion at an 1q24 locus reveals a critical role of long noncoding RNA DNM3OS in skeletal development.Cell & bioscience · 2021Article
- The role of microRNAs in bone development.Bone · 2021Review
- Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion.Frontiers in genetics · 2021Article
- Article
- Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion.Human genome variation · 2019Article
- Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.Frontiers in genetics · 2019Article
- Abnormal DNA Methylation in Thoracic Spinal Cord Tissue Following Transection Injury.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
- MicroRNAs in orthopaedic research: Disease associations, potential therapeutic applications, and perspectives.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2018Review
- Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Journal of pediatric genetics · 2017Review
- A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.Journal of human genetics · 2017Article
- The clinical significance of small copy number variants in neurodevelopmental disorders.Journal of medical genetics · 2014Article
- Refining analyses of copy number variation identifies specific genes associated with developmental delay.Nature genetics · 2014Article
- 1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.Molecular cytogenetics · 2013Article
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Authors and funding
17 authors at 10 institutions in 1 country.
Funding
Abstract
Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly and distinctive facial features: upper eyelid fullness, small ears, short nose with bulbous nasal tip, tented upper lip, and micrognathia. Radiographs demonstrate disharmonic osseous maturation with markedly delayed bone age. Occasional features include cleft lip and/or palate, cryptorchidism, brain and spinal cord defects, and seizures. Using oligonucleotide-based array comparative genomic hybridization, we defined the critical deletion region as 1.9 Mb at 1q24.3q25.1 (chr1: 170,135,865-172,099,327, hg18 coordinates), containing 13 genes and including CENPL, which encodes centromeric protein L, a protein essential for proper kinetochore function and mitotic progression. The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins. DNM3 is also in the deleted region and expressed in the brain, where it participates in the Shank-Homer complex and increases synaptic strength. Therefore, DNM3 is a candidate for the cognitive disability, and CENPL is a candidate for growth deficiency in this 1q24q25 microdeletion syndrome.
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