JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance

Hoeve, Hans; Brooks, Alice S.; Smit, Liesbeth S.

doi:10.1016/j.ijporl.2015.05.001

Cited by 4 publications

(1 citation statement)

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“…In addition to the syndromic forms described above, there are several other syndromic forms as yet not well defined from a molecular point of view (Table 1 ). First of all, the JS-X syndrome, a recessive X-linked syndrome associated with a deletion and a duplication on Xq28 [73]. This syndrome presents outer and middle ear malformation with conductive or sensorineural hearing loss focused in the higher frequencies and some non-audiological features: laryngeal obstruction caused by bilateral vocal cord paralysis, facial dysmorphism and underdeveloped shoulder musculature.…”

Section: Syndromic X-linked Sensorineural Hearing Lossmentioning

confidence: 99%

X-Linked Sensorineural Hearing Loss: A Literature Review

Corvino

Apisa

Malesci

et al. 2018

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Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several types of transmission. X-linked hearing loss accounts for approximately 1% - 2% of cases of non-syndromic forms, as well as for many syndromic forms. To date, six loci (DFNX1-6) and five genes (PRPS1 for DFNX1, POU3F4 for DFNX2, SMPX for DFNX4, AIFM1 for DFNX5 and COL4A6 for DFNX6) have been identified for X-linked non-syndromic hearing loss. For the syndromic forms, at least 15 genes have been identified, some of which are also implicated in non-syndromic forms. Moreover, some syndromic forms, presenting large chromosomal deletions, are associated with mental retardation too. This review presents an overview of the currently known genes related to X-linked hearing loss with the support of the most recent literature. It summarizes the genetics and clinical features of X-linked hearing loss to give information useful to realize a clear genetic counseling and an early diagnosis. It is important to get an early diagnosis of these diseases to decide the investigations to predict the evolution of the disease and the onset of any other future symptoms. This information will be clearly useful for choosing the best therapeutic strategy. In particular, regarding audiological aspects, this review highlights risks and benefits currently known in some cases for specific therapeutic intervention.

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Section: Syndromic X-linked Sensorineural Hearing Lossmentioning

confidence: 99%