GPSM2

Publications

Chudley A E, McCullough C, & McCullough D W. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. Am. J. Med. Genet. 1997;68:350-356. PMID: 9024571.

Hendriks Y M C et al. Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. Am J Med Genet. 1999;86:183-186. PMID: 10449658.

Lemire E G & Stoeber G P. Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. Am J Med Genet. 2000;90:127-130. PMID: 10607951.

Welch K O et al. Chudley-McCullough syndrome: expanded phenotype and review of the literature. Am J Med Genet. 2003;119A:71-76. PMID: 12707963.

Ostergaard E et al. Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. Am J Med Genet. 2004;124A:74-78. PMID: 14679590.

Matteucci F et al. Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome. Am. J. Med. Genet. 2006;140A:1183-1188. PMID: 16642503.

Alrashdi I, Barker R, & Patton M A. Chudley-McCullough syndrome: another report and a brief review of the literature. Clin Dysmorph. 2011;20:107-110. PMID: 21127420.

Shahin H et al. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Europ J Hum Genet. 2010;18:407-413. PMID: 19888295.

Walsh T et al. 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;87:90-94. PMID: 20602914.

Yariz K O et al. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Clin Genet. 2012;81:289-293. PMID: 21348867.

Doherty D et al. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet. 2012;90:1088-1093. Note: Erratum: Am J Hum Genet. 2012;91:209. PMID: 22578326.

Mauriac S et al. Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome. Nat Commun. 2017;8:14907. PMID: 28387217

Blauen A et al. Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations. Journal of Child Neurology. 2020;36(2):152-158. PMID: 33016209.