Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2

Carpenter, Nancy J.; Brown, W. Ted; Qu, Yong; Keenan, Kathy L.

doi:10.1002/(sici)1096-8628(19990730)85:3<266::aid-ajmg16>3.0.co;2-p

Cited by 14 publications

(13 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Since the AP1S2 gene mutation was identified as the cause of PGS in 2006, only nine AP1S2 mutations have been found in literatures, including eight point mutations and a microdeletion (Bassani et al., ; Carpenter, Brown, Qu, & Keenan, ; Kongsvik et al., ; Pettigrew et al., ; Tzschach et al., ). Our researches focused on eight mutations in AP1S2.…”

Section: Resultsmentioning

confidence: 99%

“…At the same time, delayed in walking, abnormal speech, hypotonia, and hydrocephalus were common (Table ). Some patients could not even talk or walk for their lives (Carpenter et al., ; Pettigrew et al., ). Nevertheless, in this study, muscular tension was normal before 4 years old, and the occurrence of hypotonia was later than other cases reported.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review

et al. 2019

View full text Add to dashboard Cite

Background Pettigrew syndrome ( PGS ) is a rare X‐linked mental retardation that caused by AP 1S2 mutation. The pathogenesis of AP 1S2 deficiency has remained elusive. The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum of AP 1S2 mutations. Methods This study systematically analyzed clinical features and genetic information of a Chinese family with AP 1S2 variation, and reviewed previously reported literatures with the same gene variation. Results We identified a new c.1‐1 G>C mutation in AP 1S2 gene from a four generation family with seven affected individuals and found the elevated neuron‐specific enolase ( NSE ) in a patient. We summarized the clinical manifestation of 59 patients with AP 1S2 mutation. We found that pathogenic point mutations affecting AP 1S2 are associated with dysmorphic features and neurodevelopmental problems, which included highly variable mental retardation ( MR ), delayed in walking, abnormal speech, hypotonia, abnormal brain, abnormal behavior including aggressive behavior, ASD , self‐abusive, and abnormal gait. Patients with splice site mutation were more likely to lead to seizures. By contrast, patients with nonsense mutations are more susceptible to microcephaly. Conclusion Our findings suggest AP 1S2 mutations contribute to a broad spectrum of neurodevelopmental disorders and are important in the etiological spectrum of PGS .

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review

et al. 2019

View full text Add to dashboard Cite

show abstract

“…7 XLID associated with mutations in AP1S2 (MIM 300629) was first described in 2006 in three families with mild to profound XLID, including two families previously reported with nonspecific XLID or syndromic XLID with marked hypotonia in infancy, severe intellectual disability and later 'difficult' behavior. [8][9][10] The phenotype was expanded in a report of two families including the original Scottish family with Fried syndrome (MIM 300630) with highly variable XLID as well as hydrocephalus and basal ganglia calcifications. [11][12][13] Elevated CSF protein levels were also added to the clinical description, 14 although only two patients were analyzed for that specific biochemical characteristic.…”

Section: Discussionmentioning

confidence: 99%

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

et al. 2013

View full text Add to dashboard Cite

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the condition. We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing. We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426 þ 1 G4T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence. The mutation reported here in AP1S2 is the first mutation that is not predicted to cause a premature termination of the coding sequence or absence of the AP1S2 protein. Although most of the families affected by a mutation in AP1S2 were initially described as having different disorders assigned to at least three different OMIM numbers (MIM 300629, 300630 and 304340), our analysis of the phenotype shows that they are all the same syndrome with recognition complicated by highly variable expressivity that is seen within as well as between families and is probably not explained by differences in mutation severity.

show abstract

“…MRX73 localization overlaps with those corresponding to MRX13, MRX19, MRX21, MRX32, MRX43, MRX54 and MRX59, all of them spanning a much or less broader region [Kerr et al, 1992; Donnelly et al, 1994; Kozak et al, 1993; Carpenter et al, 1999; Hamel et al, 1999; Hane et al, 1999; Jemaa et al, 1999]. It also overlaps partially with MRX2 [Hu et al, 1994].…”

Section: Discussionmentioning

confidence: 99%

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2

Martı́nez¹,

Martínez-Garay

Millán³

et al. 2001

Am. J. Med. Genet.

View full text Add to dashboard Cite

Clinical and molecular studies are reported on a family (MRX73) of five males with non-specific X-linked mental retardation (XLMR). A total of 33 microsatellite and RFLP markers was typed. The gene for this XLMR condition was been linked to DXS1195, with a lod score of 2.36 at theta = 0. The haplotype and multipoint linkage analyses suggest localization of the MRX73 locus to an interval of 2 cM defined by markers DXS8019 and DXS365, in Xp22.2. This interval contains the gene of Coffin-Lowry syndrome (RSK2), where a missense mutation has been associated with a form of non-specific mental retardation. Therefore, a search for RSK2 mutations was performed in the MRX73 family, but no causal mutation was found. We hypothesize that another unidentified XLMR gene is located near RSK2.

show abstract

Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2

Cited by 14 publications

References 12 publications

A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review

A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2

Contact Info

Product

Resources

About