ArticleOrphanet journal of rare diseases2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Article in Orphanet journal of rare diseases, 2017. 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, 18 citations in OpenAlex.
- Murine model of high bone mass osteogenesis imperfecta exhibits bone matrix hyper-mineralization, misaligned mineral crystals, and altered osteoblast differentiation.Bone research · 2026Article
- Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.Prenatal diagnosis · 2025Article
- Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.BMC endocrine disorders · 2025Review
- Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.BMC medical genomics · 2024Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Rapid genome sequencing for pediatrics.Human mutation · 2022Review
- Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.BMC medical genomics · 2022Article
- High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due toBone reports · 2021Article
- A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.BMC medical genomics · 2021Article
- Atypical and ultra-rare Usher syndrome: a review.Ophthalmic genetics · 2020Review
- A scoping review and proposed workflow for multi-omic rare disease research.Orphanet journal of rare diseases · 2020Article
- Identification of a Potential Founder Effect of a NovelInternational journal of molecular sciences · 2019Article
- Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2018Article
- Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.American journal of medical genetics. Part A · 2018Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysis on the offspring with either the skeletal or developmental delay phenotypes, and linkage analysis and whole exome sequencing (WES) on all four children, parents and maternal aunt.
resultsChromosomal microarray and FISH analysis identified a de novo unbalanced translocation as a cause of the microcephaly and severe developmental delay. WES identified a NSHL-causing splice variant in an autosomal recessive deafness gene PDZD7 which resided in a linkage region and affected three of the children. In the two children diagnosed with an unusual skeletal phenotype, WES eventually disclosed a heterozygous COL1A1 variant which affects C-propetide cleavage site of COL1. The variant was inherited from an apparently unaffected mosaic father in an autosomal dominant fashion. After the discovery of the COL1A1 variant, the skeletal phenotype was diagnosed as a high bone mass form of osteogenesis imperfecta.
conclusionsNext generation sequencing offers an unbiased approach to molecular genetic diagnosis in highly heterogeneous and poorly characterised disorders and enables early diagnosis as well as detection of mosaicism.
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