Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness

Lu, Xin; Zhang, Yanmei; Chen, Li; Wang, Qi; Zeng, Zhengang; Dong, Chen; Qi, Yu; Liu, Yuhe

doi:10.1016/j.ejmg.2020.103855

Cited by 7 publications

(4 citation statements)

References 20 publications

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“…A previous review on terminal 4q deletion syndrome concluded that, in addition to the high phenotypic variation in cases with overlapping interspace deletions, chromosomal 4q deletion syndromes are commonly characterized by intellectual disability, craniofacial deformities, and rotated or low-set ears [6]. In addition, a SCD5 mutation was found in a Chinese family with familial neurological hearing loss, and SCD5 was identi ed as a new therapeutic gene for autosomal dominant nonsyndromic hearing loss by whole exome sequencing [20,21]. A study by Sundagumaran [21] on anemic and non-anemic ears con rmed that iron de ciency anemia (IDA) has a lasting effect on the central auditory system when IDA persists.…”

Section: Genetic Test Resultsmentioning

confidence: 99%

Chromosome 4q deletion syndrome: 4q13.3-q21.23 deletion syndrome with mental retardation, congenital heart disease: a case report and literature review

Wang

Huang²,

Luo³

et al. 2023

Preprint

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Objective. Chromosome 4q deletion syndrome is a rare disease, and the reported genotypes cannot fully explain the clinical manifestations. This article aims to present a case that provides ideas for the clinical diagnosis of similar conditions, by adding new genotypes to the 4q deletion fragment gene pool. Case presentation.A female child aged 7-month and 3-day-old was born after repeated treatments for “cleft palate, atrial septal defect, mixed deafness, corpus callosum developmental malformation” and other diseases. By searching the PubMed, and Web of Science, CNKI, the published literature on chromosome 4 deletion was sorted and analyzed. Whole-genome sequencing,which was diagnosed as 4q13.3-q21.23 deletion syndrome. Conclusion.The diagnosis of congenital heart defects, progressive growth retardation, and mental retardation with multisystem involvement, and deletion of a gene fragment of chromosome 4 became a disorder to be considered in clinical work. Timely analysis of genetic findings could help confirm the diagnosis.

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Section: Genetic Test Resultsmentioning

confidence: 99%

Chromosome 4q deletion syndrome: 4q13.3-q21.23 deletion syndrome with mental retardation, congenital heart disease: a case report and literature review

Wang

Huang²,

Luo³

et al. 2023

Preprint

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“…BDP1 is a member of the TFIIIB complex, which plays a key role in transcription by RNA polymerase III (Girotto et al, 2013). This mitogen-activated protein kinase, MAP3K1, also plays an important role in several cellular processes (Parker et al, 2015), while SCD5 is an endoplasmic reticulum enzyme that plays a crucial role in regulating lipid metabolism (Lu et al, 2020). All of these genes have been reported to be expressed in the SV, while their mutation can cause hearing loss.…”

Section: Hereditary Hearing Lossmentioning

confidence: 99%

Role of the Stria Vascularis in the Pathogenesis of Sensorineural Hearing Loss: A Narrative Review

Zong

et al. 2021

Front. Neurosci.

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Sensorineural hearing loss is a common sensory impairment in humans caused by abnormalities in the inner ear. The stria vascularis is regarded as a major cochlear structure that can independently degenerate and influence the degree of hearing loss. This review summarizes the current literature on the role of the stria vascularis in the pathogenesis of sensorineural hearing loss resulting from different etiologies, focusing on both molecular events and signaling pathways, and further attempts to explore the underlying mechanisms at the cellular and molecular biological levels. In addition, the deficiencies and limitations of this field are discussed. With the rapid progress in scientific technology, new opportunities are arising to fully understand the role of the stria vascularis in the pathogenesis of sensorineural hearing loss, which, in the future, will hopefully lead to the prevention, early diagnosis, and improved treatment of sensorineural hearing loss.

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“…SCD5 , only conserved in several model animals, is rarely studied. All functional studies of SCD5 conducted so far were carried out on in vitro cultured cell models ( Angelucci et al., 2018 ; Burhans et al., 2015 ; Lu et al., 2020 ) . The other SCDs family member, SCD , has been extensively investigated for its roles in metabolism and several disease progression, including cancer in diverse mammalian organisms and cultured cells (Y.…”

Section: Introductionmentioning

confidence: 99%

Identification of Scd5 as a functional regulator of visceral fat deposition and distribution

Zhang¹,

Sun²,

Zhang³

et al. 2022

iScience

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Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness

Cited by 7 publications

References 20 publications

Chromosome 4q deletion syndrome: 4q13.3-q21.23 deletion syndrome with mental retardation, congenital heart disease: a case report and literature review

Chromosome 4q deletion syndrome: 4q13.3-q21.23 deletion syndrome with mental retardation, congenital heart disease: a case report and literature review

Role of the Stria Vascularis in the Pathogenesis of Sensorineural Hearing Loss: A Narrative Review

Identification of Scd5 as a functional regulator of visceral fat deposition and distribution

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