New X‐linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

Gustavson, Karl‐Henrik; Annerén, Göran; Malmgren, Helena; Dahl, Niklas; Ljunggren, Carl-Gustaf; Bäckman, Hans

doi:10.1002/ajmg.1320450527

Cited by 34 publications

(14 citation statements)

References 10 publications

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“…These include Gustavson syndrome (OMIM# 309555, X-linked mental retardation, microcephaly, optic atrophy with severely impaired vision, severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood) [Gustavson et al, 1993], Wolfram syndrome (OMIM# 222300, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) [Barrett et al, 1997], Hagemoser-Weinstein-Bresnick syndrome (OMIM# 165199, optic atrophy, early onset hearing loss, and peripheral neuropathy) [Hagemoser et al, 1989], and the X-linked Rosenberg-Chutorian syndrome (OMIM# 311070, optic atrophy, deafness, and polyneuropathy) [Rosenberg and Chutorian, 1967]. In addition, Ozden et al [2002] reported on 10 members of a three-generation family with progressive optic atrophy and progressive hearing loss.…”

Section: Discussionmentioning

confidence: 99%

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

Kosmorsky

Zhang

et al. 2005

American J of Med Genetics Pt A

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Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, OPA1. We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in OPA1. The R445H mutation is the only OPA1 mutation that has been associated with this syndrome. In this manuscript, we clinically characterize an unrelated family with four members affected by optic atrophy and hearing loss without extraocular motility abnormalities or ptosis. This family also harbors the R445H mutation. These cases help illustrate the intra- and inter-family variability in phenotype associated with this mutation. As we continue to learn more about OPA1 and the function of its protein product, we will begin to understand the pathophysiology of optic atrophy. This understanding will ultimately lead to novel treatments directed toward preventing the visual loss and disability associated with this inherited disease.

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Section: Discussionmentioning

confidence: 99%

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

Kosmorsky

Zhang

et al. 2005

American J of Med Genetics Pt A

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“…The family studied by Huang et al [1991] has been described in detail by Pettigrew et al [1991]. The family of Malmgren et al [1993] was described in detail by Gustavson et al [1993]. Malmgren et al [ 19931 made comparisons between these disorders and speculated that there existed the possibility of a contiguous gene syndrome in the area.…”

Section: Discussionmentioning

confidence: 99%

“…Malmgren et al [ 19931 made comparisons between these disorders and speculated that there existed the possibility of a contiguous gene syndrome in the area. If we accept that BFLS is an entity distinct from the disorders described by Gustavson et al [1993] and Pettigrew et al [19911, then a contiguous gene syndrome to account for all of the above would require the presence of a series of overlapping submicroscopic deletions or some other genetic mechanism which affects more than one contiguous locus.…”

Section: Discussionmentioning

confidence: 99%

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann syndrome

Gedeon

Kozman²,

Robinson³

et al. 1996

Am. J. Med. Genet.

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A detailed map of genetic markers was constructed around the gene for the X‐linked mental retardation syndrome of Börjeson‐Forssman‐Lehmann (BFLS). A multipoint linkage map of framework markers across Xq26–27, based on CEPH families, was integrated with the physical map, based on a YAC contig, to confirm marker order. The remaining genetic markers, which could not be ordered by linkage, were added to create the comprehensive genetic background map, in the order determined by physical mapping, to determine genetic distances between adjacent markers. This background genetic map is applicable to the refinement of the regional localisation for any disease gene mapping to this region. The BFLS gene was localised using this background map in an extended version of the family described by Turner et al. [1989]. The regional localisation for BFLS extends between recombination events at DXS425 and DXS105, an interval of 24.6 cM on the background genetic map. The phenotypic findings commonly seen in the feet of affected males and obligate carrier females may represent a useful clinical indicator of carrier status in potential female carriers in the family. Recombination between DXS425 and DXS105 in a female with such characteristic feet suggests that the distal limit of the regional localisation for the BFLS gene might reasonably be reduced to DXS294 for the purpose of selecting candidate genes, reducing the interval for the BFLS gene to 15.5 cM. Positional candidate genes from the interval between DXS425 and DXS105 include the SOX3 gene, mapped between DXS51(52A) and DXS98(4D‐8). SOX3 may have a role in regulating the development of the nervous system. The HMG‐box region of this single exon gene was examined by PCR for a deletion and then sequenced. No deviation from normal was observed, excluding mutations in the conserved HMG‐box region as the cause of BFLS in this family. © 1996 Wiley‐Liss, Inc.

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“…Gustavson et al [] described a single family with multiple flexion contractures at birth, IUGR, congenital blindness and deafness, severe ID, seizures, microcephaly and early death. Optic atrophy, large ears, vertical talus, enlarged ventricles, underdeveloped brain with cerebellar hypoplasia, and linkage to Xq23–q27.3 was reported [Malmgren et al, ].…”

Section: Resultsmentioning

confidence: 99%

Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

Hunter

Kiefer

Balak

et al. 2015

American J of Med Genetics Pt A

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The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.

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New X‐linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

Cited by 34 publications

References 10 publications

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann syndrome

Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

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