ArticleAmerican journal of human genetics1996
A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 69 citations in OpenAlex.
- ATRX: From Chromatin Remodeling to Disease.Genesis (New York, N.Y. : 2000) · 2025Review
- Article
- Dataset of differentially expressed genes in mouse P12 testes in response to the loss of ATRX in Sertoli cells.Data in brief · 2022Article
- Identification of a Hemizygous Novel Splicing Variant inFrontiers in pediatrics · 2022Article
- Mammalian X-chromosome inactivation: proposed role in suppression of the male programme in genetic females.Journal of genetics · 2022Article
- Review
- A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.Molecular medicine reports · 2020Review
- Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.Molecular and cellular endocrinology · 2014Article
- Disorders of sex development: new genes, new concepts.Nature reviews. Endocrinology · 2013Review
- Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.Clinical genetics · 2013Article
- ATRX has a critical and conserved role in mammalian sexual differentiation.BMC developmental biology · 2011Article
- FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure.Nucleic acids research · 2009Article
- Alpha thalassaemia-mental retardation, X linked.Orphanet journal of rare diseases · 2006Review
- The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: implications for the evolution of mammalian sex determination.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.American journal of human genetics · 1997Article
- The molecular and cellular basis of gonadal sex reversal in mice and humans.Wiley interdisciplinary reviews. Developmental biologyReview
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a pedigree presenting X-linked severe mental retardation associated with multiple congenital abnormalities and 46,XY gonadal dysgenesis, leading in one family member to female gender assignment. Female carriers are unaffected. The dysmorphic features are similar to those described in the alpha-thalassemia and mental retardation (ATR-X) syndrome, although there is no clinical evidence of alpha-thalassemia in this family. In addition, the family had other clinical features not previously observed in the ATR-X syndrome, including partial optic-nerve atrophy and partial ocular albinism. Mutations in a putative DNA helicase, termed XH2, have been reported to give rise to the ATR-X syndrome. We screened the XH2 gene for mutations in affected members of the family and identified a 4-bp deletion at an intron/exon boundary that removes an invariant 3' splice-acceptor site. The mutation cosegregates with the syndrome. The genomic deletion causes missplicing of the pre-mRNA, which results in the loss of 8 bp of coding sequence, thereby generating a frameshift and a downstream premature stop codon. Our finding increases the range of clinical features associated with mutations in the XH2 gene.
Indexed as
Identifiers
8651295PMC1915046W1605216457What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.