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Case Reports
. 2024 May 19;15(5):643.
doi: 10.3390/genes15050643.

CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction

Jef Driesen  1 , Helen Van Hoecke  1 , Leen Maes  2 , Sandra Janssens  3 , Frederic Acke  1 , Els De Leenheer  1
Affiliations
Case Reports

CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction

Jef Driesen et al. Genes (Basel). .

Abstract

CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the CHD7 gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and ear anomalies, CHARGE syndrome's diagnostic spectrum has broadened since the identification of CHD7. Variants in this gene exhibit considerable phenotypic variability, leading to the adoption of the term "CHD7 disorder" to encompass a wider range of associated symptoms. Recent research has identified CHD7 variants in individuals with isolated features such as autism spectrum disorder or gonadotropin-releasing hormone deficiency. In this study, we present three cases from two different families exhibiting audiovestibular impairment as the primary manifestation of a CHD7 variant. We discuss the expanding phenotypic variability observed in CHD7-related disorders, highlighting the importance of considering CHD7 in nonsyndromic hearing loss cases, especially when accompanied by inner ear malformations on MRI. Additionally, we underscore the necessity of genetic counseling and comprehensive clinical evaluation for individuals with CHD7 variants to ensure appropriate management of associated health concerns.

Keywords: CHARGE syndrome; CHD7 Genotype–phenotype; cochleovestibular audiometry; nonsyndromic hearing loss.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Audiometry demonstrating normal hearing on the right side (a) and unilateral sensorineural hearing loss on the left side (b). Squares indicate masked air-conduction thresholds, circles (right ear) and crosses (left ear) indicate unmasked air-conduction thresholds. The vertical axis shows the degree of hearing loss in decibels [dB], and the horizontal axis shows the frequency range.
Figure 2
Figure 2
MRI of the inner ear for case 1, T2 tse3d weighted image, dysplasia of the lateral and vestibulum bilaterally (blue arrow depicts dysplastic canal on the left, red on the right).
Figure 3
Figure 3
ABR with a normal hearing threshold at 20 dB nHL is shown in red on the right panel; absent thresholds at 80 dB nHL are depicted in blue on the left, with no detectable I–V complex.
Figure 4
Figure 4
MRI of the inner ear for case 2, T2 tse3d weighted image, dysplasia of lateral semicircular canals (red arrows).
Figure 5
Figure 5
MRI of the inner ear for case 2, T2 tse3d weighted image, hypoplasia of the left cochlear nerve (red arrow).
Figure 6
Figure 6
Video Head Impulse Test (vHIT) of the three left and right semicircular canals. The blue and orange lines indicate head movement on the left and right side of the head, respectively, in relation to its accompanied eye movement (green lines) as part of the vestibulo–ocular reflex. Results are quantified as ‘mean gains’. A perfect VOR gain is a gain of 1.0 (eye movement is exactly equal and opposite to head movements), while a VOR gain lower than 0.80 has been proposed as the cut-point between normal and abnormally low VOR gain. The vHIT from case 3 demonstrates only preserved function of the right anterior and both posterior semicircular canals.
Figure 7
Figure 7
MRI of the inner ear for case 3, T2 tse3d weighted image, hypo-/dysplastic lateral semicircular canals bilaterally (red arrows).
See this image and copyright information in PMC

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