#618457
Table of Contents
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-115 (DFNB115) is caused by compound heterozygous mutation in the SPNS2 gene (612584) on chromosome 17p13. One such patient has been reported.
DFNB115 is characterized by severe sensorineural hearing impairment in early childhood (Ingham et al., 2019).
Ingham et al. (2019) studied a 2-year-old girl from the United States in whom visual reinforcement audiometry revealed moderate to moderately severe hearing loss between 250 Hz and 4 kHz with no response at 8 kHz in the right ear, and severe hearing loss sloping to profound deafness from 500 Hz to 8 kHz with no response at 4 and 8 kHz in the left ear. Bone conduction testing indicated moderate-to-severe hearing loss at 2 kHz in the right ear, suggesting sensorineural impairment, and acoustic reflexes were absent. The authors noted that the child had surprisingly good sound localization performance.
By clinical whole-exome sequencing in a 2-year-old girl with sensorineural hearing loss, Ingham et al. (2019) identified compound heterozygosity for mutations in the SPNS2 gene: a frameshift mutation (612584.0001) inherited from her father, and a 3-bp in-frame deletion (612584.0002) inherited from her mother. Neither mutation was found in the gnomAD database.
Ingham, N. J., Pearson, S. A., Vancollie, V. E., Rook, V., Lewis, M. A., Chen, J., Buniello, A., Martelletti, E., Preite, L., Lam, C. C., Weiss, F. D., Powis, Z., Suwannarat, P., Lelliott, C. J., Dawson, S. J., White, J. K., Steel, K. P. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS Biol. 17: e3000194, 2019. Note: Electronic Article. [PubMed: 30973865, related citations] [Full Text]
DO: 0111643;
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
17p13.2 | ?Deafness, autosomal recessive 115 | 618457 | Autosomal recessive | 3 | SPNS2 | 612584 |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-115 (DFNB115) is caused by compound heterozygous mutation in the SPNS2 gene (612584) on chromosome 17p13. One such patient has been reported.
DFNB115 is characterized by severe sensorineural hearing impairment in early childhood (Ingham et al., 2019).
Ingham et al. (2019) studied a 2-year-old girl from the United States in whom visual reinforcement audiometry revealed moderate to moderately severe hearing loss between 250 Hz and 4 kHz with no response at 8 kHz in the right ear, and severe hearing loss sloping to profound deafness from 500 Hz to 8 kHz with no response at 4 and 8 kHz in the left ear. Bone conduction testing indicated moderate-to-severe hearing loss at 2 kHz in the right ear, suggesting sensorineural impairment, and acoustic reflexes were absent. The authors noted that the child had surprisingly good sound localization performance.
By clinical whole-exome sequencing in a 2-year-old girl with sensorineural hearing loss, Ingham et al. (2019) identified compound heterozygosity for mutations in the SPNS2 gene: a frameshift mutation (612584.0001) inherited from her father, and a 3-bp in-frame deletion (612584.0002) inherited from her mother. Neither mutation was found in the gnomAD database.
Ingham, N. J., Pearson, S. A., Vancollie, V. E., Rook, V., Lewis, M. A., Chen, J., Buniello, A., Martelletti, E., Preite, L., Lam, C. C., Weiss, F. D., Powis, Z., Suwannarat, P., Lelliott, C. J., Dawson, S. J., White, J. K., Steel, K. P. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS Biol. 17: e3000194, 2019. Note: Electronic Article. [PubMed: 30973865] [Full Text: https://doi.org/10.1371/journal.pbio.3000194]
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