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The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin
Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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King Faisal Specialist Hospital and Research Centre
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074128/ https://www.ncbi.nlm.nih.gov/pubmed/26336027 http://dx.doi.org/10.5144/0256-4947.2015.170 |
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author | Ratbi, Ilham Lyahyai, Jaber Kabiri, Meryem Banouar, Meryem Zerkaoui, Maria Barkat, Amina Sefiani, Abdelaziz |
author_facet | Ratbi, Ilham Lyahyai, Jaber Kabiri, Meryem Banouar, Meryem Zerkaoui, Maria Barkat, Amina Sefiani, Abdelaziz |
author_sort | Ratbi, Ilham |
collection | PubMed |
description | Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and dental anomalies), and abnormalities of the extremities. The prevalence of SSS is unknown. Reported patients are were almost exclusively from the Arabian Peninsula. They are were all homozygous for the ancestral mutation c.155- 166del of the TBCE gene, also known as “the Bedouin mutation.” We report on the first clinical and molecular description of a Moroccan patient with Sanjad-Sakati syndrome. He is was a carrier for the Bedouin mutation, not surprising, knowing that part of the Moroccan population has Arabian origin. This diagnosis allowed us to provide an appropriate management to the patient, to make a genetic counseling to his family, and to enrich genetic data on the Moroccan population. |
format | Online Article Text |
id | pubmed-6074128 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | King Faisal Specialist Hospital and Research Centre |
record_format | MEDLINE/PubMed |
spelling | pubmed-60741282018-09-21 The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin Ratbi, Ilham Lyahyai, Jaber Kabiri, Meryem Banouar, Meryem Zerkaoui, Maria Barkat, Amina Sefiani, Abdelaziz Ann Saudi Med Case Report Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and dental anomalies), and abnormalities of the extremities. The prevalence of SSS is unknown. Reported patients are were almost exclusively from the Arabian Peninsula. They are were all homozygous for the ancestral mutation c.155- 166del of the TBCE gene, also known as “the Bedouin mutation.” We report on the first clinical and molecular description of a Moroccan patient with Sanjad-Sakati syndrome. He is was a carrier for the Bedouin mutation, not surprising, knowing that part of the Moroccan population has Arabian origin. This diagnosis allowed us to provide an appropriate management to the patient, to make a genetic counseling to his family, and to enrich genetic data on the Moroccan population. King Faisal Specialist Hospital and Research Centre 2015 /pmc/articles/PMC6074128/ /pubmed/26336027 http://dx.doi.org/10.5144/0256-4947.2015.170 Text en Copyright © 2015, Annals of Saudi Medicine This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Case Report Ratbi, Ilham Lyahyai, Jaber Kabiri, Meryem Banouar, Meryem Zerkaoui, Maria Barkat, Amina Sefiani, Abdelaziz The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin |
title | The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin |
title_full | The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin |
title_fullStr | The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin |
title_full_unstemmed | The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin |
title_short | The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin |
title_sort | bedouin mutation c.155-166del of the tbce gene in a patient with sanjad-sakati syndrome of moroccan origin |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074128/ https://www.ncbi.nlm.nih.gov/pubmed/26336027 http://dx.doi.org/10.5144/0256-4947.2015.170 |
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