The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin

Annals of Saudi Medicine
Ilham RatbiAbdelaziz Sefiania

Abstract

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.

References

Oct 1, 1990·Archives of Disease in Childhood·R J Richardson, J M Kirk
Feb 1, 1991·Archives of Disease in Childhood·S A SanjadR D Milner
Jan 1, 1988·Journal of Medical Genetics·A S TeebiS Satyanath
Oct 22, 2002·Nature Genetics·Ruti ParvariUNKNOWN HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium
May 13, 2009·Journal of Biosocial Science·I Cherkaoui JaouadA Sefiani
Jul 7, 2012·Eastern Mediterranean Health Journal = La Revue De Santé De La Méditerranée Orientale = Al-Majallah Al-ṣiḥḥīyah Li-sharq Al-mutawassiṭ·J AlbaramkiH Hamamy

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Citations

Sep 7, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Stephanie YeagerBina Shah

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Methods Mentioned

BETA
cesarean section

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