Frequency and specific characteristics of the incomplete partition type III anomaly in children

Kanno, Ayako; Mutai, Hideki; Namba, Kazunori; Morita, Noriko; Nakano, Atsuko; Ogahara, Noboru; Sugiuchi, Tomoko; Ogawa, Kaoru; Matsunaga, Tatsuo

doi:10.1002/lary.26245

Cited by 14 publications

(16 citation statements)

References 50 publications

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“…So far, five genes have been identified for X-linked nonsyndromic hearing loss. 4 Cochlear IP-III is the rarest among the X-linked nonsyndromic causes of hearing loss. It is an X-linked recessive disorder caused by mutation of the POU3F4 gene located on chromosome X.…”

Section: Discussionmentioning

confidence: 99%

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Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications

Al-Busaidi¹,

Habib²,

Al-Lawati³

et al. 2021

Oman Med J

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In this case report, we review a male child who presented with severe bilateral hearing loss. Preoperative high-resolution computed tomography (HRCT) evaluation facilitated the initial diagnosis of the disease, which revealed typical findings of cochlear incomplete partition type III anomaly (IP-III), surgical planning, and cochlear implant selection to avoid possible complications. The child underwent cochlear implantation, which resulted in gushing and misplacement of the electrodes into the internal auditory canal (IAC) as postoperative complications. Postoperative imaging was used to determine the position of the implant and to assess the complications. The child’s postoperative X-ray revealed misplacement of the cochlear implant, the extent of which was further assessed by a HRCT scan for preplanning the revision surgery and electrode selection. Following the revision surgery, a further HRCT scan confirmed proper implantation and ruled out any further complications.

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Section: Discussionmentioning

confidence: 99%

“…Inner ear anomalies have been reported in 20% of patients with congenital hearing loss. 4 According to the current literature, inner ear malformations are classified into eight distinct groups. 6 IP-III anomaly represents around 4% of them.…”

Section: Discussionmentioning

confidence: 99%

Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications

Al-Busaidi¹,

Habib²,

Al-Lawati³

et al. 2021

Oman Med J

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“…The severity of hearing loss among patients with different types of POU3F4 mutations varied greatly. To date, no correlation was found between certain genotypes and initial auditory phenotype [ 28 , 30 ].…”

Section: Discussionmentioning

confidence: 99%

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

et al. 2020

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Aims. This study is aimed at (1) analyzing the clinical manifestations and genetic features of a novel POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family and (2) reporting the outcomes of cochlear implantation in a patient with this mutation. Methods. A patient who was diagnosed as the IP-III malformation underwent cochlear implantation in our hospital. The genetic analysis was conducted in his family, including the whole-exome sequencing combined with Sanger sequencing and bioinformatic analysis. Clinical features, preoperative auditory and speech performances, and postoperative outcomes of cochlear implant (CI) were assessed on the proband and his family. Results. A novel variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was detected in the family, which was cosegregated with the hearing loss. This variant was absent in 200 normal-hearing persons. The phylogenetic analysis and structure modeling of Pou3f4 protein further confirmed that the novel mutation was pathogenic. The proband underwent cochlear implantation on the right ear at four years old and gained greatly auditory and speech improvement. However, the benefits of the CI declined about three and a half years postoperation. Though the right ear had been reimplanted, the outcomes were still worse than before. Conclusion. A novel frame shift variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was identified in a Chinese family with X-linked inheritance hearing loss. A patient with this mutation and IP-III malformation could get good benefits from CI. However, the outcomes of the cochlear implantation might decline as the patient grows old.

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“…When present, EVA in these patients seems to be different from that described in DFNB4/Pendred syndrome; Incesulu et al presented four case reports where vestibular aqueducts showed great inter-patient variability, but all were large and symmetrical and become cystic or enlarged from the middle parts to the ends near the vestibule [ 131 ]. Accordingly, Kanno et al identified 6 patients (0.6%) with incomplete partition type 3 and POU3F4 mutations among 1004 children with hearing loss; all of them had an enlargement of the vestibular aqueduct close to the vestibule but not at the operculum; these authors linked this specific finding with an absence of hearing fluctuations in these patients [ 132 ]. Similarly, Anderson et al described two brothers with POU3F4 mutations and dilation of the portion of the vestibular aqueduct close to the vestibule [ 133 ].…”

Section: Genes Involved In Determining Non-syndromic Enlarged Vestibular Aqueductmentioning

confidence: 99%

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review

et al. 2021

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Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more than 300 genes known to be involved in the hearing function. Hearing loss of genetic origin is frequently associated with inner ear malformations; of these, the most commonly detected is the enlarged vestibular aqueduct (EVA). EVA may be associated to other cochleovestibular malformations, such as cochlear incomplete partitions, and can be found in syndromic as well as non-syndromic forms of hearing loss. Genes that have been linked to non-syndromic EVA are SLC26A4, GJB2, FOXI1, KCNJ10, and POU3F4. SLC26A4 and FOXI1 are also involved in determining syndromic forms of hearing loss with EVA, which are Pendred syndrome and distal renal tubular acidosis with deafness, respectively. In Caucasian cohorts, approximately 50% of cases of non-syndromic EVA are linked to SLC26A4 and a large fraction of patients remain undiagnosed, thus providing a strong imperative to further explore the etiology of this condition.

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Frequency and specific characteristics of the incomplete partition type III anomaly in children

Abstract: 4 Laryngoscope, 127:1663-1669, 2017.

Cited by 14 publications

References 50 publications

Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications

Incomplete Partition Type III: Computed Tomography Features and Cochlear Implantation Complications

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review

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