ArticleAmerican journal of human genetics1998
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
Article in American journal of human genetics, 1998. 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, 83 citations in OpenAlex.
- Article
- Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in theFrontiers in immunology · 2021Article
- Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.Frontiers in pediatrics · 2021Article
- Article
- Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.Endocrine reviews · 2017Review
- Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.European journal of medical research · 2016Article
- Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Journal of genetic counseling · 2014Review
- Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.Case reports in genetics · 2014Article
- Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.Molecular syndromology · 2012Article
- Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.Orphanet journal of rare diseases · 2011Review
- Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.American journal of medical genetics. Part A · 2010Article
- A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.BMC medical genetics · 2009Article
- Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.Molecular vision · 2007Article
- The ratio of maternal to paternal UPD associated with recessive diseases.Human genetics · 2005Article
- Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.Human genetics · 2004Review
- Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.American journal of human genetics · 2004Article
- Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.Nature · 2003Article
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.American journal of human genetics · 2002Article
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V). Since the A277V mutation was carried by the patient's father but not by his mother, who had two normal cathepsin K alleles, paternal uniparental disomy was suspected. Karyotyping of the patient and of both parents was normal, and high-resolution cytogenetic analyses of chromosome 1, to which cathepsin K is mapped, revealed no abnormalities. Evaluation of polymorphic DNA markers spanning chromosome 1 demonstrated that the patient had inherited two paternal chromosome 1 homologues, whereas alleles for markers from other chromosomes were inherited in a Mendelian fashion. The patient was homoallelic for informative markers mapping near the chromosome 1 centromere, but he was heteroallelic for markers near both telomeres, establishing that the paternal uniparental disomy with partial isodisomy was caused by a meiosis II nondisjunction event. Phenotypically, the patient had normal birth height and weight, had normal psychomotor development at age 7 years, and had only the usual features of pycnodysostosis. This patient represents the first case of paternal uniparental disomy of chromosome 1 and provides conclusive evidence that paternally derived genes on human chromosome 1 are not imprinted.
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