Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant
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Abstract
In the present case report, we have found a novel variant for TRIOBP in a patient with congenital hearing loss. The patient is an 8-year-old female with hearing loss, the first child of consanguineous parents. To identify the underlying genetic defect, whole genome sequencing was performed. Carrier screening of the parents was
also conducted. The results showed a homozygous autosomal recessive missense c.5849C>T (p.Pro1950Leu) variant in exon 16 of the TRIOBP gene. To our knowledge, this variant has not been previously reported as either a pathogenic or a benign variant. The novel TRIOBP variant found in the present study broadens the range of TRIOBP mutations implicated in hearing loss. Accordingly, the results of this study may be important for genetic counseling.
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[10] Shahin H, Walsh T, Sobe T, Abu Sa’ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M. Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet. 2006 Jan;78(1):144-52. https:// doi.org/10.1086/499495
[11] Kitajiri S, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, et al. Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell. 2010 May 28;141(5):786-98. https://doi.org/10.1016/j. cell.2010.03.049
[12] Gürtler N, Lalwani AK. Etiology of syndromic and nonsyndromic sensorineural hearing loss. Otolaryngol Clin North Am. 2002 Aug;35(4):891-908. https://doi.org/10.1016/S0030- 6665(02)00053-1
[13] Katsuno T, Belyantseva IA, Cartagena-Rivera AX, Ohta K, Crump SM, Petralia RS, et al. TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing. JCI Insight. 2019 Jun 20;4(12):e128561.
ttps://doi.org/10.1172/jci.insight.128561
[14] Zaharija B, Samardžija B, Bradshaw NJ. The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer. Molecules. 2020 Oct 27;25(21):4967. https://doi.org/10.3390/molecules25214967
[15] Yoshinaga-Itano C, Sedey AL, Coulter DK, Mehl AL. Language of early- and later-identified children with hearing
loss. Pediatrics. 1998 Nov;102(5):1161-71. https://doi. org/10.1542/peds.102.5.1161
[2] Morton CC, Nance WE. Newborn hearing screening-a silent revolution. N Engl J Med. 2006 May 18;354(20):2151-64.
https://doi.org/10.1056/NEJMra050700
[3] Nikolopoulos TP. Auditory dyssynchrony or auditory neuropathy: understanding the pathophysiology and exploring
methods of treatment. Int J Pediatr Otorhinolaryngol. 2014 Feb;78(2):171-3. https://doi.org/10.1016/j.ijporl.2013.12.021
[4] Friedman TB, Griffith AJ. Human nonsyndromic sensorineural deafness. Annu Rev Genomics Hum Genet. 2003;4:341-402. https://doi.org/10.1146/annurev.genom.4.070802.110347
[5] Lewis MA, Nolan LS, Cadge BA, Matthews LJ, Schulte BA, Dubno JR, Steel KP, Dawson SJ. Whole exome sequencing
in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes. BMC Med Genomics. 2018 Sep 4;11(1):77. https://doi.org/10.1186/s12920-018-0395-1
[6] Wu CC, Chen PJ, Chiu YH, Lu YC, Wu MC, Hsu CJ. Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results
between families from hospitals and those from rehabilitation facilities. Audiol Neurootol. 2008;13(3):172-81. https://doi. org/10.1159/000112425
[7] Wu CC, Liu TC, Wang SH, Hsu CJ, Wu CM. Genetic characteristics in children with cochlear implants and the corresponding auditory performance. Laryngoscope. 2011 Jun;121(6):1287- 93. https://doi.org/10.1002/lary.21751
[8] Miyagawa M, Nishio SY, Ikeda T, Fukushima K, Usami S. Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. PLoS One. 2013 Oct 9;8(10):e75793. https://doi.org/10.1371/journal.pone.0075793
[9] Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am J Hum Genet. 2006 Jan;78(1):137-43. https://doi.org/10.1086/499164
[10] Shahin H, Walsh T, Sobe T, Abu Sa’ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M. Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet. 2006 Jan;78(1):144-52. https:// doi.org/10.1086/499495
[11] Kitajiri S, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, et al. Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell. 2010 May 28;141(5):786-98. https://doi.org/10.1016/j. cell.2010.03.049
[12] Gürtler N, Lalwani AK. Etiology of syndromic and nonsyndromic sensorineural hearing loss. Otolaryngol Clin North Am. 2002 Aug;35(4):891-908. https://doi.org/10.1016/S0030- 6665(02)00053-1
[13] Katsuno T, Belyantseva IA, Cartagena-Rivera AX, Ohta K, Crump SM, Petralia RS, et al. TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing. JCI Insight. 2019 Jun 20;4(12):e128561.
ttps://doi.org/10.1172/jci.insight.128561
[14] Zaharija B, Samardžija B, Bradshaw NJ. The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer. Molecules. 2020 Oct 27;25(21):4967. https://doi.org/10.3390/molecules25214967
[15] Yoshinaga-Itano C, Sedey AL, Coulter DK, Mehl AL. Language of early- and later-identified children with hearing
loss. Pediatrics. 1998 Nov;102(5):1161-71. https://doi. org/10.1542/peds.102.5.1161
| Files | ||
| Issue | Vol 9 No 3 (2024): May-June | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v9i3.17236 | |
| Keywords | ||
| TRIOBP gene Congenital hearing loss Whole genome sequencing | ||
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How to Cite
1.
Jangam S, Kurup M, Arora P, Jawale S, Duraphe P, Gupte S. Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant. CRCP. 2024;9(3):108-113.
