Objectives: Sanjad-Sakatti syndrome or hypoparathyroidism-retardation-dysmorphism syndrome (HDRs) is a rare autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay.
Methods: Thirteen unrelated Palestinian infants to a consanguineous Palestinian families presented in early infancy with hypoparathyroidism, hypocalcemic seizures, dysmorphic features, growth retardation and developmental delay, assessed to have Sanjad-Sakatti syndrome and were managed accordingly. Clinical manifestations of all presenting patients and their molecular analysis has been checked to correlate clinical presentation with the specific genotype.
Results: Sequencing of the TBCE gene showed that ten patients of our series of Thirteen patients are homozygous for the mutation (c.155-166del12;p.del52-55) in exon 3 of this gene, the common deletion founder effect of the TBCE gene in Arab patients, while the other three patients had novel mutations:c.355_356delAT in exon 4 of TBCE gene and c.354_355del, p.S118fs of the TBCE gene (which has been detected by whole exom sequencing).
Conclusions: To our knowledge, this is the first description of a series of thirteen families of Palestinian origin of this disease with molecular confirmation, showing the common deletion founder effect, allowing accurate genetic counseling, early diagnosis of affected kindred's, early therapeutic interventions and avoiding complications. Checking novel mutations for this disease, allowing to check if the clinical presentation does correlate well with the specific genotype in Palestinian patients.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology