The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
PMID 26336027 | PMCID PMC6074128 | DOI 10.5144/0256-4947.2015.170 · Annals of Saudi medicine · 2015
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TBCE | “The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.155-166del | “The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.” | 0.95 | hgvs_regex_v1 |