Session: SUN 596-623-Case Reports: Pediatric Endocrinology & Metabolism
Poster Board SUN-612
Clinical and molecular studies: Exome sequencing was performed on a 5.9 years old boy from a consanguineous Palestinian family. He presented neonatally at 40d of age with persistent neonatal diabetes, bilateral cataracts, congenital (prelingual) deafness and left hydronephrosis. During follow up he developed failure to thrive, microcephaly, severe psychomotor retardation, seizures, severe scoliosis and bilateral lower limbs contractures. Laboratory investigations revealed normal serum electrolytes, lipase and thyroid function tests, normal urine osmolality, low serum insulin levels, negative anti insulin antibodies, normal pancreas by sonogram, 46,XY karyotype, and normal sequencing of the KiR6.2 gene. Whole exome sequencing revealed a heterozygous, c.923 C>T (p. S308F) novel, de-novo, missense mutation in an evolutionary conserved amino acid of WFS1; that was defined damaging by predicting softwares. Although wolframin 1’s function has not been established its known formation as an oligomer suggests, that a dominant negative effect may cause the severe phenotype
Conclusion: A novel de-novo heterozygous WFS1 mutation causes a unique and severe WS with cataracts, deafness and diabetes mellitus presenting neonatally. The clinical application of next-generation sequencing technology enhanced the diagnosis of a rare genetic disorder in a patient with atypical presentation and may have a role in defining new clinical manifestations of rare syndromes, such as WS.
Nothing to Disclose: DZ, AA, RJ, TW, MCK, EL
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