autosomal recessive nonsyndromic deafness 111

Autosomal Recessive Nonsyndromic Deafness 111, also known as DFNB111, is a form of non-syndromic, sensorineural deafness characterized by early-onset, moderate to severe hearing loss with no vestibular involvement [3]. It is caused by mutations in the MPZL2 gene [14].

The condition typically presents with bilateral (but sometimes asymmetric) hearing loss that occurs in the first decade of life, with high frequency hearing being more severely affected [1]. The hearing loss is usually stable and does not progress over time.

DFNB111 is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition. Carriers of the mutation may have normal hearing but can pass the mutated gene to their offspring [15].

It's worth noting that DFNB111 is one of several forms of autosomal recessive nonsyndromic deafness, and more research is needed to fully understand its characteristics and implications for affected individuals and families.

Autosomal Recessive Nonsyndromic Deafness 111 (DFNB11) is a genetic disorder that affects hearing. According to the available information, individuals with DFNB11 typically experience early-onset, moderate to severe sensorineural hearing loss without any vestibular involvement [4].

The signs and symptoms

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) is a genetic disorder that affects hearing, and diagnostic tests play a crucial role in establishing the diagnosis. Here are some key points about diagnostic tests for ARNSHL:

• Genetic testing: Genetic testing is the primary method of diagnosing ARNSHL. It involves analyzing DNA samples from individuals with suspected ARNSHL to identify mutations in genes associated with this condition, such as GJB2 [1]. The purpose of genetic testing in individuals with suspected hereditary non-syndromic hearing loss (NSHL) is to establish the diagnosis of a specific genetic cause of their hearing loss [4].
• Newborn Hearing Screening (NBHS): NBHS typically identifies severe-to-profound hearing loss, which can be associated with ARNSHL. However, it's essential to note that NBHS may not detect all cases of ARNSHL [3].
• Audiological assessment: Audiological assessment is a crucial step in diagnosing ARNSHL. It involves evaluating an individual's hearing thresholds and identifying any patterns or characteristics that suggest ARNSHL.
• Genetic diagnostic methods: Various genetic diagnostic methods are available, including PCR (Polymerase Chain Reaction), sequencing, and microarray analysis [14]. These methods can help identify mutations in genes associated with ARNSHL.

It is essential to note that the diagnosis of ARNSHL requires a comprehensive evaluation, including clinical assessment, audiological testing, and genetic analysis. A multidisciplinary team approach, involving audiologists, geneticists, and other healthcare professionals, is often necessary to establish an accurate diagnosis.

References:

[1] Feb 1, 2016 — About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these cases are ...

[3] Jul 20, 2023 — In countries where available, newborn hearing screening (NBHS) typically identifies severe-to-profound hearing loss. GJB2-AR NSHL can also be ...

[4] Jan 1, 2024 — The purpose of genetic testing in individuals with suspected hereditary non-syndromic hearing loss (NSHL) is to establish the diagnosis of a specific genetic cause of their hearing loss.

[14] by LH Hoefsloot · 2013 · Cited by 27 — Non-syndromic hearing impairment caused by mutations in the genes at the DFNB1 locus is associated with congenital, generally non-progressive, sensorineural ...

Autosomal recessive nonsyndromic deafness (ARNSHL) is a type of hearing loss that occurs when there is a mutation in one of the genes responsible for hearing, and an individual inherits two copies of the mutated gene, one from each parent.

Current Treatment Options

Unfortunately, there are no specific drug treatments available for autosomal recessive nonsyndromic deafness. The current treatment options for ARNSHL are limited to:

• Hearing aids: These can be used to amplify sound and improve communication.
• Cochlear implants: These are medical devices that bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals with severe to profound hearing loss to perceive sound.

Gene Therapy

While there is no specific drug treatment available for ARNSHL, researchers are exploring gene therapy as a potential treatment option. Gene therapy involves introducing a healthy copy of the mutated gene into the cells responsible for

Differential Diagnosis of Autosomal Recessive Nonsyndromic Deafness

Autosomal recessive nonsyndromic deafness is a type of hearing loss that is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition. The differential diagnosis of this condition involves identifying other possible causes of hearing loss and distinguishing them from autosomal recessive nonsyndromic deafness.

Common Causes of Hearing Loss

• GJB2-related autosomal recessive nonsyndromic hearing loss: This is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations. It accounts for up to 50% of autosomal recessive hearing loss and thus 20% of all congenital hearing loss [1, 13].
• STRC-related autosomal recessive hearing loss: This condition is characterized by mild to moderate, congenital, bilateral, and symmetric sensorineural hearing loss. It is caused by mutations in the STRC gene and can be associated with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2 [11].
• Other genetic causes: More than 70 genes have been associated with autosomal recessive nonsyndromic hearing loss, including the GJB2 gene, which codes for a protein called connexin 26 [10].

Key Features of Autosomal Recessive Nonsyndromic Deafness

• Prelingual and severe to profound: In general, autosomal recessive nonsyndromic hearing loss is prelingual and severe to profound. However, there is a spectrum of degrees of hearing loss, and exceptions to this generalization are summarized in Table 3 [14].
• Congenital and bilateral: Autosomal recessive nonsyndromic deafness is typically present at birth and affects both ears.

References

[1] Cited by 240 — RJH Smith (no specific page number)

[10] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present at birth) severe-to-profound non-progressive sensorineural hearing loss in many world populations.

[11] 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.

[13] In cases of non syndromic hearing loss, the most common mutation occurs in the Gap Junction Beta 2 gene (GJB2) which can account for up to 50% of autosomal recessive hearing loss and thus 20% of all congenital hearing loss.

[14] In general, autosomal recessive nonsyndromic hearing loss is prelingual and severe to profound. However, there is a spectrum of degrees of hearing loss, and exceptions to this generalization and/or distinctive features associated with selected genes are summarized in Table 3.