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. 2012 Nov;158A(11):2972-3.
doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14.

GPSM2 mutations in Chudley-McCullough syndrome

Oscar Diaz-Horta  1 , Asli Sirmaci, Dan Doherty, Walter Nance, Kathleen Arnos, Arti Pandya, Mustafa Tekin
Affiliations

GPSM2 mutations in Chudley-McCullough syndrome

Oscar Diaz-Horta et al. Am J Med Genet A. 2012 Nov.
No abstract available

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Figures

Figure 1
Figure 1
Panel A: Abbreviated pedigree of the family. Solid symbols represent subjects with CMS. The genotype is indicated below each symbol. Genomic DNA of the second male with CMS was not available (NA) for sequencing. Panel B: GPSM2 mutations. Electropherograms of forward sequence of GPSM2: unrelated control (top-left), c.742delC (p.G249EfsX32) in an affected subject (bottom-left), unrelated control (top-right), c.1492C>T (p.R498X) in an affected subject (bottom-right).
See this image and copyright information in PMC

References

    1. Alrashdi I, Barker R, Patton MA. Chudley-McCullough syndrome: another report and a brief review of the literature. Clin Dysmorphol. 2011;20(2):107–10. - PubMed
    1. Chudley AE, McCullough C, McCullough DW. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. Am J Med Genet. 1997;68(3):350–6. - PubMed
    1. Doherty D, Chudley A, Coghlan G, Ishak G, Innes A, Lemire E, Rogers R, Mhanni A, Phelps I, Jones S, Zhan S, Fejes A, Shahin H, Kanaan M, Akay H, Tekin M, Triggs-Raine B, Zelinski T FORGE Canada Consortium. Mutations in the G Protein Signaling Modulator 2 Gene, GPSM2, Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome. Am J Hum Genet. 2012;90:1088–93. - PMC - PubMed
    1. Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet. 2010;87(1):90–4. - PMC - PubMed
    1. Welch KO, Tekin M, Nance WE, Blanton SH, Arnos KS, Pandya A. Chudley-McCullough syndrome: expanded phenotype and review of the literature. Am J Med Genet A. 2003;119A(1):71–6. - PubMed

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