Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.
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ABSTRACT:
SUBMITTER: Bou Chaaya S
PROVIDER: S-EPMC5534661 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
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Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.
Bou Chaaya Solange S Eason Julian D JD Ofoegbu Bibian N BN
BMJ case reports 20170716
We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The deter ...[more]
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