Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

Adadi, Najlae; Lahrouchi, Najim; Bouhouch, Raschida; Fellat, I.; Amri, Rachida; Alders, Mariëlle; Sefiani, Abdelaziz; Bezzina, Connie R.; Ratbi, Ilham

doi:10.1186/s13256-017-1243-1

Cited by 3 publications

(3 citation statements)

References 11 publications

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“…So far, 21 different homozygous or compound heterozygous mutations in KCNQ1 gene and 3 homozygous or compound heterozygous mutations in KCNE1 gene in JLNS patients have been characterized according to the Human Genome Database (HGMD), http://www.hgmd.cf.ac.uk/ac/index.php) …”

Section: Discussionmentioning

confidence: 99%

“…16 So far, 21 different homozygous or compound heterozygous mutations in KCNQ1 gene and 3 homozygous or compound heterozygous mutations in KCNE1 gene in JLNS patients have been characterized according to the Human Genome Database (HGMD), http://www.hgmd.cf.ac.uk/ac/index.php). 17 In this study, we have identified a homozygous frameshift mutation in exon 5 (c.733-734delGG) of the KCNQ1 gene in 2 nonconsanguineous families with JLNS among an Iranian cohort of LQTS patients. The mutation has not been reported previously in HGMD and 1000 genomes databases.…”

Section: Ge Netic Studymentioning

confidence: 99%

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Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

Amirian

Zafari

Dalili

et al. 2018

Journal of Arrhythmia

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Jervell‐Lange Nielsen syndrome (JLNS) with autosomal recessive inheritance is a congenital cardiovascular disorder characterized by prolongation of QT interval on the ECG and deafness. We have performed molecular investigation by haplotype analysis and DNA Sanger sequencing in 2 unrelated Iranian families with a history of syncope. Mutational screening of KCNQ1 gene revealed the novel homozygous frameshift mutation c.733‐734delGG (p.G245Rfs*39) in 2 obviously unrelated cases of JLNS which is probably a founder mutation in Iran. The novel mutation detected in this study is the first time reported among Iranian population and will be beneficial in the tribe and region‐specific cascade screening of LQTS in Iran.

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Section: Discussionmentioning

confidence: 99%

Section: Ge Netic Studymentioning

confidence: 99%

Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

Amirian

Zafari

Dalili

et al. 2018

Journal of Arrhythmia

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“…Jervell and Lange-Nielsen syndrome was found in a Moroccan family that presented with congenital severe bilateral sensorineural HI. The affected patient had several episodes of syncope and was diagnosed with an associated KCNQ1 (c.1343dupC, p.Glu449Argfs*14) variant (Adadi et al 2017).…”

Section: Jervell and Lange-nielsen Syndromementioning

confidence: 99%

Hearing loss in Africa: current genetic profile

et al. 2021

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Hearing impairment (HI) is highly heterogeneous with over 123 associated genes reported to date, mostly from studies among Europeans and Asians. Here, we performed a systematic review of literature on the genetic profile of HI in Africa. The study protocol was registered on PROSPERO, International Prospective Register of Systematic Reviews with the registration number “CRD42021240852”. Literature search was conducted on PubMed, Scopus, Africa-Wide Information, and Web of Science databases. A total of 89 full-text records was selected and retrieved for data extraction and analyses. We found reports from only 17/54 (31.5%) African countries. The majority (61/89; 68.5%) of articles were from North Africa, with few reports found from sub-Saharan Africa. The most common method used in these publications was targeted gene sequencing (n = 66/111; 59.5%), and only 13.5% (n = 15/111) used whole-exome sequencing. More than half of the studies were performed in families segregating HI (n = 51/89). GJB2 was the most investigated gene, with GJB2: p.(R143W) founder variant only reported in Ghana, while GJB2: c.35delG was common in North African countries. Variants in MYO15A were the second frequently reported in both North and Central Africa, followed by ATP6V1B1 only reported from North Africa. Usher syndrome was the main syndromic HI molecularly investigated, with variants in five genes reported: USH2A, USH1G, USH1C, MYO7A, and PCDH15. MYO7A: p.(P1780S) founder variant was reported as the common Usher syndrome variant among Black South Africans. This review provides the most comprehensive data on HI gene variants in the largely under-investigated African populations. Future exomes studies particularly in multiplex families will likely provide opportunities for the discovery of the next sets of novel HI genes, and well as unreported variants in known genes to further our understanding of HI pathobiology, globally.

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Investigation of KCNQ1 polymorphisms as biomarkers for cardiovascular diseases in the Turkish Cypriots for establishing preventative medical measures

Tulay

Temel

Ergoren

2019

International Journal of Biological Macromolecules

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Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

Cited by 3 publications

References 11 publications

Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

Hearing loss in Africa: current genetic profile

Investigation of KCNQ1 polymorphisms as biomarkers for cardiovascular diseases in the Turkish Cypriots for establishing preventative medical measures

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