Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV

Wang, Hong-Han; Li, Haibo; Wu, Hong; Mei, Lingyun; Wang, Xingwei; Jiang, Lu; He, Chufeng

doi:10.1016/j.ijporl.2016.10.028

Cited by 5 publications

(1 citation statement)

References 33 publications

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“…As heterozygous mutations in NPR2 were also shown to cause short stature without specific skeletal abnormalities 14 , we propose a combined negative effect of both variants on the growth phenotype of patient P3. The observation of mutations in more than one gene contributing to a patient’s phenotype has recently been reported for other diseases 15 .…”

Section: Resultsmentioning

confidence: 92%

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Hauer

Sticht

Boppudi

et al. 2017

Sci Rep

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Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in the ACAN gene coding for the proteoglycan aggrecan, a main component of the cartilage matrix, were associated with idiopathic short stature. To ascertain the prevalence of ACAN mutations and broaden the phenotypic spectrum in patients with idiopathic short stature we performed sequence analyses in 428 families. We identified heterozygous nonsense mutations in four and potentially disease-causing missense variants in two families (1.4%). These patients presented with a mean of −3.2 SDS and some suggestive clinical characteristics. The results suggest heterozygous mutations in ACAN as a common cause of isolated as well as inherited idiopathic short stature.

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Section: Resultsmentioning

confidence: 92%

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Hauer

Sticht

Boppudi

et al. 2017

Sci Rep

View full text Add to dashboard Cite

show abstract

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

et al. 2019

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A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options

et al. 2022

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Hearing impairment is one of the most widespread inheritable sensory disorder affecting at least 1 in every 1000 born. About two‐third of hereditary hearing loss (HHL) disorders are non‐syndromic. To provide comprehensive update of monogenic causes of non‐syndromic hearing loss (NSHL), literature search has been carried out with appropriate keywords in the following databases–PubMed, Google Scholar, Cochrane library, and Science Direct. Out of 2214 papers, 271 papers were shortlisted after applying inclusion and exclusion criterion. Data extracted from selected papers include information about gene name, identified pathogenic variants, ethnicity of the patient, age of onset, gender, title, authors' name, and year of publication. Overall, pathogenic variants in 98 different genes have been associated with NSHL. These genes have important role to play during early embryonic development in ear structure formation and hearing development. Here, we also review briefly the recent information about diagnosis and treatment approaches. Understanding pathogenic genetic variants are helpful in the management of affected and may offer targeted therapies in future.

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Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV

Cited by 5 publications

References 33 publications

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options

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