Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

Ali, Ghazanfar; Lee, Kwanghyuk; Andrade, Paula B.; Basit, Sulman; Santos‐Cortez, Regie Lyn P.; Chen, Leon; Jelani, Musharraf; Ansar, Muhammad; Ahmad, Wasim; Leal, Suzanne M.

doi:10.1159/000320154

Cited by 4 publications

(4 citation statements)

References 54 publications

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“…Therefore, we hypothesized that MACC1 expression might be such a driving component for NF2-associated VS. MACC1 is overexpressed in malignant, especially metastatic tumors, but not in benign or non-metastatic tumor entities [ 1 , 2 , 43 ]. In addition, it had been shown that it might be involved in hearing impairment [ 5 ]. Hence, MACC1 mRNA expression was analyzed in different entities of VS and it was surprising that MACC1 was not overexpressed in the more aggressive NF2-associated VS compared to healthy vestibular nerves, but instead in the more benign sporadic VS compared to both.…”

Section: Discussionmentioning

confidence: 99%

“…Although VS are considered benign tumors, they have the potential to invade the surrounding neural tissues. Since MACC1 has the ability to enhance cell invasiveness [ 1 , 2 ] and it was identified as a candidate gene localized at the autosomal recessive non-syndromic hearing impairment locus DFNB90 mapping to 7p22.1-p15.3, its association with hearing loss was hypothesized [ 5 ]. Other genes of the DFNB90 region are ACTB, NXPH1 and PRPS1L1 [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…Since MACC1 has the ability to enhance cell invasiveness [ 1 , 2 ] and it was identified as a candidate gene localized at the autosomal recessive non-syndromic hearing impairment locus DFNB90 mapping to 7p22.1-p15.3, its association with hearing loss was hypothesized [ 5 ]. Other genes of the DFNB90 region are ACTB, NXPH1 and PRPS1L1 [ 5 ]. Interestingly, these genes have been identified in the transcriptome list of MACC1.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, MACC1 is mainly expressed in highly malignant and metastatic tumors, without notable expression in benign tumors [ 1 , 2 ]. Interestingly, MACC1 was identified as a candidate gene localized at the autosomal recessive non-syndromic hearing impairment locus DFNB90, and therefore suggests its association with hearing loss [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

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Metastasis Associated in Colorectal Cancer 1 (MACC1) mRNA Expression Is Enhanced in Sporadic Vestibular Schwannoma and Correlates to Deafness

Breun,

Flock,

Feldheim

et al. 2023

Cancers

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Vestibular schwannoma (VS) are benign cranial nerve sheath tumors of the vestibulocochlear nerve. Their incidence is mostly sporadic, but they can also be associated with NF2-related schwannomatosis (NF2), a hereditary tumor syndrome. Metastasis associated in colon cancer 1 (MACC1) is known to contribute to angiogenesis, cell growth, invasiveness, cell motility and metastasis of solid malignant cancers. In addition, MACC1 may be associated with nonsyndromic hearing impairment. Therefore, we evaluated whether MACC1 may be involved in the pathogenesis of VS. Sporadic VS, recurrent sporadic VS, NF2-associated VS, recurrent NF2-associated VS and healthy vestibular nerves were analyzed for MACC1 mRNA and protein expression by quantitative polymerase chain reaction and immunohistochemistry. MACC1 expression levels were correlated with the patients’ clinical course and symptoms. MACC1 mRNA expression was significantly higher in sporadic VS compared to NF2-associated VS (p < 0.001). The latter expressed similar MACC1 concentrations as healthy vestibular nerves. Recurrent tumors resembled the MACC1 expression of the primary tumors. MACC1 mRNA expression was significantly correlated with deafness in sporadic VS patients (p = 0.034). Therefore, MACC1 might be a new molecular marker involved in VS pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Metastasis Associated in Colorectal Cancer 1 (MACC1) mRNA Expression Is Enhanced in Sporadic Vestibular Schwannoma and Correlates to Deafness

Breun,

Flock,

Feldheim

et al. 2023

Cancers

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Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

Vona¹,

Nanda²,

Hofrichter³

et al. 2015

Molecular and Cellular Probes

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From the first identified non-syndromic hearing loss gene in 1995, to those discovered in present day, the field of human genetics has witnessed an unparalleled revolution that includes the completion of the Human Genome Project in 2003 to the $1000 genome in 2014. This review highlights the classical and cutting-edge strategies for non-syndromic hearing loss gene identification that have been used throughout the twenty year history with a special emphasis on how the innovative breakthroughs in next generation sequencing technology have forever changed candidate gene approaches. The simplified approach afforded by next generation sequencing technology provides a second chance for the many linked loci in large and well characterized families that have been identified by linkage analysis but have presently failed to identify a causative gene. It also discusses some complexities that may restrict eventual candidate gene discovery and calls for novel approaches to answer some of the questions that make this simple Mendelian disorder so intriguing.

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MACC1 – a novel target for solid cancers

Stein

2013

Expert Opinion on Therapeutic Targets

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MACC1 has been identified as a prognostic biomarker in a variety of solid cancers. MACC1 correlated with tumor formation and progression, development of metastases and patient survival representing a decisive driver for tumorigenesis and metastasis. MACC1 was also demonstrated to be of predictive value for therapy response. MACC1 is a promising therapeutic target for anti-tumor and anti-metastatic intervention strategies of solid cancers. Its clinical utility, however, must be demonstrated in clinical trials.

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Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

Cited by 4 publications

References 54 publications

Metastasis Associated in Colorectal Cancer 1 (MACC1) mRNA Expression Is Enhanced in Sporadic Vestibular Schwannoma and Correlates to Deafness

Metastasis Associated in Colorectal Cancer 1 (MACC1) mRNA Expression Is Enhanced in Sporadic Vestibular Schwannoma and Correlates to Deafness

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

MACC1 – a novel target for solid cancers

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