Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)
Autor: | Bryce A. Mendelsohn, Anthony T. Moore, Aditi Chawla, Ryan J. Taft, Anne Slavotinek, Denise L. Perry, Duncan Henry, Kristin E. Hirabayashi |
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Rok vydání: | 2018 |
Předmět: |
0301 basic medicine
Male DNA Mutational Analysis Choanal atresia Eye Gastroenterology Congenital 2.1 Biological and endogenous factors Aetiology Genetics (clinical) Pediatric Coloboma Membrane Glycoproteins Ophthalmoscopes Diarrhea Phenotype keratitis Optic nerve medicine.symptom Hyponatremia congenital sodium diarrhea Optic nerve coloboma medicine.medical_specialty Clinical Sciences ocular findings with SPINT2 Article 03 medical and health sciences congenital tufting enteropathy Clinical Research Internal medicine medicine Genetics Humans Eye Disease and Disorders of Vision Alleles Genetic Association Studies eye findings with SPINT2 Whole Genome Sequencing business.industry Facies Infant Optic Nerve SPINT2 medicine.disease Congenital tufting enteropathy eye diseases 030104 developmental biology Amino Acid Substitution Mutation sense organs corneal erosions business Imperforate anus |
Zdroj: | American journal of medical genetics. Part A, vol 176, iss 4 |
Popis: | 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. |
Databáze: | OpenAIRE |
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