Sanjad Sakati syndrome: a case series from Jordan

Abstract

Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan.

Sanjad-Sakati syndrome in a Tunisian child

“…SSS is a relatively common autosomal recessive disorder reported almost exclusively among Arabs. The data suggest the founder effect of the common mutation of TBCE gene, 155-166del, among Arab patients [8,10,11]. Several other mutations such as those responsible for carbonic anhydrase and Crigler-Najjar disease have been reported in the Middle East and Tunisia.…”

“…SSS is a rare autosomal recessive disorder and was originally described in 12 infants of consanguineous parents from Saudi Arabia [1]. Several other reports followed, and SSS was reported in Oman, Palestine, Qatar, Kuwait, and Jordan [10][11][12][13]23]. All Arab patients showed homozygosity for a 12-bp (155-166del) deletion in exon 3 of the TBCE gene.…”

“…The TBCE gene encodes for a tubulin-specific chaperone E protein required for the proper folding of alphatubulin subunits and the formation of alpha-beta-tubulin heterodimers [7][8][9]. SSS is not uncommon in Middle Eastern populations and has a high prevalence among Arabs [1,3,8,[10][11][12][13][14][15][16]. Interestingly, all affected patients of Arab origin have shown homozygosity for a 12-bp (155-166del) deletion in exon 3 of the TBCE gene.…”

Consanguinity and Dysmorphology in Arabs

“…It is particularly widespread among Bedouins of the gulf region, but it has also been reported in Palestine, Egypt and Jordan [41][42][43] . It is caused by mutations in TBCE gene [44,45] There are a total of 147 entries, 55 of them are dysmorphic syndromes or include facial dysmorphism in their features [39].…”

Neurological manifestations in children with Sanjad–Sakati syndrome

“…Twenty-two percent of our patients showed intracranial calcifications upon brain CT and/or MRI due to excessive use of vitamin D and calcium therapy, evidenced by the renal calcification reported in 66.6% of the studied population and the elevated urine calcium/creatinine ratio in 91.2% of our patients. A thin corpus callosum was reported in two patients (8.3%); this factor was reported in a previous study with a higher incidence rate 13. In a skeletal survey, only 8.3% of patients showed medullary stenosis (Figure 5), which is more common in KCS 1,11…”