ArticleAmerican journal of human genetics1993
Linkage mapping of a severe X-linked mental retardation syndrome.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.European journal of human genetics : EJHG · 2024Article
- Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.European journal of human genetics : EJHG · 2024Article
- Molecular Specialization of GABAergic Synapses on the Soma and Axon in Cortical and Hippocampal Circuit Function and Dysfunction.Frontiers in molecular neuroscience · 2019Article
- Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- On the Teneurin track: a new synaptic organization molecule emerges.Frontiers in cellular neuroscience · 2015Review
- Human teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter.BMC developmental biology · 2011Article
- Crystal structure of a fibroblast growth factor homologous factor (FHF) defines a conserved surface on FHFs for binding and modulation of voltage-gated sodium channels.The Journal of biological chemistry · 2009Article
- A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.American journal of human genetics · 2000Article
- Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.Journal of medical genetics · 1998Article
- Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.Journal of medical genetics · 1998Article
- A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.Journal of medical genetics · 1995Article
- A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.American journal of human genetics · 1994Article
- X-linked mental retardation: in pursuit of a gene map.American journal of human genetics · 1993Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A four-generation Swedish family with a new type of X-linked mental retardation syndrome was recently reported by Gustavson et al. The complex syndrome includes microcephaly, severe mental retardation, optical atrophy with decreased vision or blindness, severe hearing defect, characteristic facial features, spasticity, seizures, and restricted joint motility. The patients die during infancy or early in childhood. Twenty-one family members, including two affected males, were available for study. Linkage analysis was conducted in the family by using 11 RFLP markers and 10 VNTR markers spread along the X chromosome. A hypervariable short tandem repeat of DXS294 at Xq26 showed a peak two-point lod score of 3.35 at zero recombination fraction. Calculations using the same markers revealed a multipoint peak lod score of 3.65 at DXS294. Crossover events with the centromeric marker DXS424 and the telomeric marker DXS297 delimit a probable region for the gene localization. It is noteworthy that hte disease loci of two other syndromes with overlapping clinical manifestations recently were shown by Turner et al. and Pettigrew et al. to be linked to markers at Xq26.
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