Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
Abstract Background Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a lon...
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| Format: | Article |
| Language: | English |
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BMC
2017-04-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | http://link.springer.com/article/10.1186/s13256-017-1243-1 |
| _version_ | 1819028045897400320 |
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| author | N. Adadi N. Lahrouchi R. Bouhouch I. Fellat R. Amri M. Alders A. Sefiani C. Bezzina I. Ratbi |
| author_facet | N. Adadi N. Lahrouchi R. Bouhouch I. Fellat R. Amri M. Alders A. Sefiani C. Bezzina I. Ratbi |
| author_sort | N. Adadi |
| collection | DOAJ |
| description | Abstract Background Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Jervell and Lange-Nielsen syndrome is caused by homozygous or compound heterozygous mutations in KCNQ1 on 11p15.5 or KCNE1 on 1q22.1-q22.2. Case presentation We report the case of a 10-year-old Moroccan boy with congenital hearing loss and severely prolonged QT interval who presented with multiple episodes of syncope. His parents are first-degree cousins. We performed Sanger sequencing and identified a homozygous variant in KCNQ1 (c.1343dupC, p.Glu449Argfs*14). Conclusions The identification of the genetic substrate in this patient confirmed the clinical diagnosis of Jervell and Lange-Nielsen syndrome and allowed us to provide him with appropriate management and genetic counseling to his family. In addition, this finding contributes to our understanding of genetic disease in the Moroccan population. |
| first_indexed | 2024-12-21T05:52:08Z |
| format | Article |
| id | doaj.art-b3eec2b95280441e829667ef16df2f83 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-21T05:52:08Z |
| publishDate | 2017-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-b3eec2b95280441e829667ef16df2f832022-12-21T19:13:57ZengBMCJournal of Medical Case Reports1752-19472017-04-011111510.1186/s13256-017-1243-1Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case reportN. Adadi0N. Lahrouchi1R. Bouhouch2I. Fellat3R. Amri4M. Alders5A. Sefiani6C. Bezzina7I. Ratbi8Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Mohammed V UniversityDepartment of Clinical and Experimental Cardiology, Academic Medical Center, University of AmsterdamElectrophysiologie et Stimulation Cardiaque, Clinique BelvédèreElectrophysiologie et Stimulation Cardiaque, Clinique BelvédèreService de Cardiologie B, CHU Ibn SinaDepartment of Clinical Genetics, Academic Medical Center, University of AmsterdamCentre de Génomique Humaine, Faculté de Médecine et Pharmacie, Mohammed V UniversityDepartment of Clinical and Experimental Cardiology, Academic Medical Center, University of AmsterdamDépartement de Génétique Médicale, Institut National d’HygièneAbstract Background Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Jervell and Lange-Nielsen syndrome is caused by homozygous or compound heterozygous mutations in KCNQ1 on 11p15.5 or KCNE1 on 1q22.1-q22.2. Case presentation We report the case of a 10-year-old Moroccan boy with congenital hearing loss and severely prolonged QT interval who presented with multiple episodes of syncope. His parents are first-degree cousins. We performed Sanger sequencing and identified a homozygous variant in KCNQ1 (c.1343dupC, p.Glu449Argfs*14). Conclusions The identification of the genetic substrate in this patient confirmed the clinical diagnosis of Jervell and Lange-Nielsen syndrome and allowed us to provide him with appropriate management and genetic counseling to his family. In addition, this finding contributes to our understanding of genetic disease in the Moroccan population.http://link.springer.com/article/10.1186/s13256-017-1243-1Jervell and Lange-Nielsen syndromeLong QT syndromeDeafnessMoroccanMutation |
| spellingShingle | N. Adadi N. Lahrouchi R. Bouhouch I. Fellat R. Amri M. Alders A. Sefiani C. Bezzina I. Ratbi Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report Journal of Medical Case Reports Jervell and Lange-Nielsen syndrome Long QT syndrome Deafness Moroccan Mutation |
| title | Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report |
| title_full | Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report |
| title_fullStr | Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report |
| title_full_unstemmed | Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report |
| title_short | Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report |
| title_sort | clinical and molecular findings in a moroccan family with jervell and lange nielsen syndrome a case report |
| topic | Jervell and Lange-Nielsen syndrome Long QT syndrome Deafness Moroccan Mutation |
| url | http://link.springer.com/article/10.1186/s13256-017-1243-1 |
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