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Deafness-infertility syndrome(DIS)

MedGen UID:
370197
Concept ID:
C1970187
Disease or Syndrome
Synonym: Deafness and male infertility
SNOMED CT: Sensorineural deafness and male infertility (700489002); Deafness infertility syndrome (700489002); Chromosome 15q15.3 deletion syndrome (700489002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): CATSPER2 (15q15.3); STRC (15q15.3)
 
Monarch Initiative: MONDO:0012621
OMIM®: 611102
Orphanet: ORPHA94064

Disease characteristics

Excerpted from the GeneReview: STRC-Related Autosomal Recessive Hearing Loss
STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2. The hearing loss is mild to moderate, congenital, bilateral, and symmetric. Mean pure tone hearing loss averages 40-50 decibels (dB) at the time of diagnosis; hearing loss is not severe to profound in children or young adults. Of note, while many newborns with STRC-HL will be identified by newborn hearing screening (NBHS), some newborns with STRC-HL will not because some screening methods may not detect milder hearing loss. Males with biallelic contiguous gene deletions involving STRC and CATSPER2 are at risk for CATSPER2-related male infertility due to morphologic sperm abnormalities that affect sperm motility. In contrast, females with contiguous gene deletions do not have related fertility issues. [from GeneReviews]
Authors:
Shelby Redfield  |  A Eliot Shearer   view full author information

Additional descriptions

From OMIM
Deafness-infertility syndrome (DIS), characterized by early-onset deafness in both males and females and exclusive male infertility, is caused by homozygous deletion of the STRC and CATSPER2 genes on chromosome 15q15.5 (summary by Vona et al., 2015).  http://www.omim.org/entry/611102
From MedlinePlus Genetics
Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Males with this condition produce sperm that have decreased movement (motility), causing affected males to be infertile.  https://medlineplus.gov/genetics/condition/sensorineural-deafness-and-male-infertility

Clinical features

From HPO
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Reduced sperm motility
MedGen UID:
98339
Concept ID:
C0403823
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
Abnormal spermatogenesis
MedGen UID:
488909
Concept ID:
C0520933
Finding
Incomplete maturation or aberrant formation of the male gametes.
Abnormal sperm tail morphology
MedGen UID:
868305
Concept ID:
C4022699
Finding
A structural abnormality of the sperm tail.
Abnormal sperm head morphology
MedGen UID:
868308
Concept ID:
C4022702
Finding
A structural abnormality of the sperm head.
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness-infertility syndrome
Follow this link to review classifications for Deafness-infertility syndrome in Orphanet.

Recent clinical studies

Etiology

Simi A, Perry J, Schindler E, Oza A, Luo M, Hartman T, Krantz ID, Germiller JA, Kawai K, Kenna M
Laryngoscope 2021 Dec;131(12):E2897-E2903. Epub 2021 Jun 10 doi: 10.1002/lary.29680. PMID: 34111299
Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ
J Med Genet 2007 Apr;44(4):233-40. Epub 2006 Nov 10 doi: 10.1136/jmg.2006.045765. PMID: 17098888Free PMC Article

Diagnosis

Sack LM, Mertens L, Murphy E, Hutchinson L, Giersch ABS, Mason-Suares H
Clin Chem 2023 Jun 1;69(6):583-594. doi: 10.1093/clinchem/hvad032. PMID: 37022747
Simi A, Perry J, Schindler E, Oza A, Luo M, Hartman T, Krantz ID, Germiller JA, Kawai K, Kenna M
Laryngoscope 2021 Dec;131(12):E2897-E2903. Epub 2021 Jun 10 doi: 10.1002/lary.29680. PMID: 34111299
Kim BJ, Oh DY, Han JH, Oh J, Kim MY, Park HR, Seok J, Cho SD, Lee SY, Kim Y, Carandang M, Kwon IS, Lee S, Jang JH, Choung YH, Lee S, Lee H, Hwang SM, Choi BY
Genet Med 2020 Jun;22(6):1119-1128. Epub 2020 Mar 17 doi: 10.1038/s41436-020-0774-9. PMID: 32203226
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article

Prognosis

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article

Clinical prediction guides

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article

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