ArticleJournal of medical genetics1998
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 33 citations in OpenAlex.
- 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy.Case reports in endocrinology · 2026Article
- Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.Journal of clinical research in pediatric endocrinology · 2017Article
- Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia.Advanced biomedical research · 2015Review
- Salt-wasting congenital adrenal hyperplasia: genotypical peculiarities in a Sicilian ethnic group.Journal of endocrinological investigation · 2008Article
- 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
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
- An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.The Journal of molecular diagnostics : JMD · 2001Review
- Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.American journal of human genetics · 2000Article
- Antenatal treatment of a mother bearing a fetus with congenital adrenal hyperplasia.Archives of disease in childhood. Fetal and neonatal edition · 2000Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis caused by mutations in the steroid 21-hydroxylase gene (CYP21) in more than 90% of affected patients. The CYP21 gene is located within the HLA complex locus on chromosome 6 (6p21.3). During a molecular characterisation study of a group of 47 Mexican families with 21-hydroxylase deficiency, we identified nine in which the mutation or mutations found in the patient did not appear to originate from one of the parents. Through DNA fingerprinting, paternity was established in all nine families with a probability of non-paternity in the range of 10(-19) to 10(-23). Among these families, we identified one patient with exclusive paternal inheritance of all eight markers tested on chromosome 6p, despite normal maternal and paternal contributions for eight additional markers on three different chromosomes. We did not identify duplication of paternal information for markers in the 6q region, consistent with lack of expression of transient neonatal diabetes owing to genomic imprinting in this patient. Our results substantiate evidence for the existence of different genetic mechanisms involved in the expression of this recessive condition in a substantial portion (approximately 19%) of affected Mexican families. In addition to the identification of a patient with paternal uniparental disomy, the occurrence of germline mutations may explain the unusual pattern of segregation in the majority of the remaining eight families.
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