#609006
Table of Contents
Other entities represented in this entry:
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-36 with or without vestibular involvement (DFNB36) is caused by homozygous mutation in the espin gene (ESPN; 606351) on chromosome 1p36.
A form of autosomal dominant nonsyndromic deafness without vestibular involvement may be caused by heterozygous mutation in the ESPN gene.
Naz et al. (2004) reported 2 consanguineous Pakistani families segregating recessively inherited deafness and vestibular areflexia. Affected individuals exhibited prelingual profound sensorineural hearing loss and independent ambulation delayed beyond 1.5 years of age. The affected members of the first family denied vestibular symptoms although caloric testing with electronystagmography revealed vestibular areflexia. Affected members of the second family reported balance problems and testing confirmed vestibular areflexia.
Clinical Variability
Boulouiz et al. (2008) showed that mutations in the ESPN gene could cause recessive nonsyndromic deafness without vestibular areflexia.
A genomewide search revealed a 6-cM region of homozygosity on chromosome 1p36.3 in 4 individuals of the first family reported by Naz et al. (2004). A maximum 2-point lod score of 4.1 (theta = 0) was obtained with marker D1S214, defining a new recessive deafness locus, DFNB36. In the second family, hearing loss was consistent with linkage to DFNB36 with a maximum 2-point lod score of 3.4 (theta = 0) with marker D1S3774.
In 2 consanguineous Pakistani families segregating recessively inherited deafness and vestibular areflexia, Naz et al. (2004) identified 2 different homozygous frameshift mutations in the espin gene (606351.0001-606351.0002).
In 6 affected members of a consanguineous Moroccan family with autosomal recessive deafness without vestibular involvement, Boulouiz et al. (2008) identified a homozygous mutation in the ESPN gene (606351.0007).
Donaudy et al. (2006) reported ESPN mutations in patients affected by autosomal dominant hearing loss without vestibular involvement (see 606351.0003-606351.0006).
Boulouiz, R., Li, Y., Soualhine, H., Abidi, O., Chafik, A., Nurnberg, G., Becker, C., Nurnberg, P., Kubisch, C., Wollnik, B., Barakat, A. A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. (Letter) Am. J. Med. Genet. 146A: 3086-3089, 2008. [PubMed: 18973245, related citations] [Full Text]
Donaudy, F., Zheng, L., Ficarella, R., Ballana, E., Carella, M., Melchionda, S., Estivill, X., Bartles, J. R., Gasparini, P. Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. (Letter) J. Med. Genet. 43: 157-161, 2006. [PubMed: 15930085, images, related citations] [Full Text]
Naz, S., Griffith, A. J., Riazuddin, S., Hampton, L. L., Battey, J. F., Jr., Khan, S. N., Riazuddin, S., Wilcox, E. R., Friedman, T. B. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J. Med. Genet. 41: 591-595, 2004. [PubMed: 15286153, related citations] [Full Text]
Other entities represented in this entry:
ORPHA: 90636; DO: 0110494;
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
1p36.31 | Deafness, autosomal recessive 36 | 609006 | Autosomal recessive | 3 | ESPN | 606351 |
1p36.31 | Deafness, neurosensory, without vestibular involvement, autosomal dominant | 609006 | Autosomal recessive | 3 | ESPN | 606351 |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-36 with or without vestibular involvement (DFNB36) is caused by homozygous mutation in the espin gene (ESPN; 606351) on chromosome 1p36.
A form of autosomal dominant nonsyndromic deafness without vestibular involvement may be caused by heterozygous mutation in the ESPN gene.
Naz et al. (2004) reported 2 consanguineous Pakistani families segregating recessively inherited deafness and vestibular areflexia. Affected individuals exhibited prelingual profound sensorineural hearing loss and independent ambulation delayed beyond 1.5 years of age. The affected members of the first family denied vestibular symptoms although caloric testing with electronystagmography revealed vestibular areflexia. Affected members of the second family reported balance problems and testing confirmed vestibular areflexia.
Clinical Variability
Boulouiz et al. (2008) showed that mutations in the ESPN gene could cause recessive nonsyndromic deafness without vestibular areflexia.
A genomewide search revealed a 6-cM region of homozygosity on chromosome 1p36.3 in 4 individuals of the first family reported by Naz et al. (2004). A maximum 2-point lod score of 4.1 (theta = 0) was obtained with marker D1S214, defining a new recessive deafness locus, DFNB36. In the second family, hearing loss was consistent with linkage to DFNB36 with a maximum 2-point lod score of 3.4 (theta = 0) with marker D1S3774.
In 2 consanguineous Pakistani families segregating recessively inherited deafness and vestibular areflexia, Naz et al. (2004) identified 2 different homozygous frameshift mutations in the espin gene (606351.0001-606351.0002).
In 6 affected members of a consanguineous Moroccan family with autosomal recessive deafness without vestibular involvement, Boulouiz et al. (2008) identified a homozygous mutation in the ESPN gene (606351.0007).
Donaudy et al. (2006) reported ESPN mutations in patients affected by autosomal dominant hearing loss without vestibular involvement (see 606351.0003-606351.0006).
Boulouiz, R., Li, Y., Soualhine, H., Abidi, O., Chafik, A., Nurnberg, G., Becker, C., Nurnberg, P., Kubisch, C., Wollnik, B., Barakat, A. A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. (Letter) Am. J. Med. Genet. 146A: 3086-3089, 2008. [PubMed: 18973245] [Full Text: https://doi.org/10.1002/ajmg.a.32525]
Donaudy, F., Zheng, L., Ficarella, R., Ballana, E., Carella, M., Melchionda, S., Estivill, X., Bartles, J. R., Gasparini, P. Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. (Letter) J. Med. Genet. 43: 157-161, 2006. [PubMed: 15930085] [Full Text: https://doi.org/10.1136/jmg.2005.032086]
Naz, S., Griffith, A. J., Riazuddin, S., Hampton, L. L., Battey, J. F., Jr., Khan, S. N., Riazuddin, S., Wilcox, E. R., Friedman, T. B. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J. Med. Genet. 41: 591-595, 2004. [PubMed: 15286153] [Full Text: https://doi.org/10.1136/jmg.2004.018523]
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