Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations,including p.(Tyr163Cys) |
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| Authors: | Kristin E. Hirabayashi Anthony T. Moore Bryce A. Mendelsohn Ryan J. Taft Aditi Chawla Denise Perry Duncan Henry Anne Slavotinek |
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| Affiliation: | 1. Department of Ophthalmology, University of California, San Francisco, San Francisco, California;2. Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California;3. Clinical Genomics Research, Illumina Inc., San Diego, California;4. Division of Critical Care, Department of Pediatrics, University of California, San Francisco, San Francisco, California |
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| Abstract: | Congenital sodium diarrhea is a rare and life‐threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz‐Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndromic features. We present a child with congenital sodium diarrhea, cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia who was found to have biallelic mutations in SPINT2. One mutation, c.488A > G, predicting p.(Tyr163Cys), has been previously associated with a syndromic form of congenital sodium diarrhea. The other mutation, c.166_167dupTA, predicting p.(Asn57Thrfs*24) has not previously been reported and is likely a novel pathogenic variant for this disorder. We found only one other report of an optic nerve coloboma associated with SPINT2 mutations and this occurred in a patient with congenital tufting enteropathy. Our patient confirms an association of ocular coloboma with presumed loss of SPINT2 function. |
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| Keywords: | coloboma congenital sodium diarrhea congenital tufting enteropathy corneal erosions eye findings with SPINT2 keratitis ocular findings with SPINT2 SPINT2 |
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