Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.
Clin Res Hepatol Gastroenterol
; 40(6): e65-e67, 2016 Dec.
Article
en En
| MEDLINE
| ID: mdl-27720179
ABSTRACT
Congenital short-bowel syndrome (CSBS) is a rare neonatal pathology associated with poor prognosis and high mortality rate. We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene, one in intron 1 (c.28+1G>C), the other on exon 4 (c502C>T, p.R168X). Both mutations are predicted to be pathogenic, leading to impaired splicing and the appearance of a premature stop codon, respectively. Our case is remarkable in that it concerns two heterozygous truncating mutations associated with a good clinical prognosis with a favorable cerebral and gastrointestinal outcome and a substantial enteral input at 8 months of age, despite a small intestine measuring only 35cm.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Seudoobstrucción Intestinal
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Proteína de la Membrana Similar al Receptor de Coxsackie y Adenovirus
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
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Newborn
Idioma:
En
Revista:
Clin Res Hepatol Gastroenterol
Año:
2016
Tipo del documento:
Article
País de afiliación:
Francia