Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
BACKGROUND
Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation.


METHODS
We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain. Exons 4 and 5 of the SP-C gene showed heterozygous Thr138Asn polymorphism and homozygous Asn186Asn polymorphism respectively. At intron 25 at position -98 from exon 26 a homozygous C>T transition mutation was detected in ABCA3 gene.


CONCLUSIONS
The clinical presentation and the histopathological findings of this case are consistent with a case of neonatal respiratory failure due to surfactant deficiency. Analysis of the five coding SP-C exons does not support surfactant deficiency. An analysis of the mutation IVS25-98 T was performed and a homozygous mutation responsible for our case's neonatal respiratory failure was detected. The findings suggest an autosomic recessive pattern of inheritance. Genetic counseling was provided and the relatives are now informed of the recurrence risks and treatment options.
Universidad Icesi, Centro de investigacion en anomalias congenitas y enfermedades raras (CIACER), Calle 18 No. 122-135 Edificio Valle de Lili, 5to piso, Pance, Cali, Colombia. Hmpachajoa@Icesi.edu.co.|Fundación Valle del Lili, Av. Simón Bolívar. Cra 98 # 18-49, Cali, Colombia. Hmpachajoa@Icesi.edu.co.
Harry
H
Pachajoa
Universidad Icesi, Centro de investigacion en anomalias congenitas y enfermedades raras (CIACER), Calle 18 No. 122-135 Edificio Valle de Lili, 5to piso, Pance, Cali, Colombia.
Felipe
F
Ruiz-Botero
Universidad del Valle, Departamento Cirugía Plastica, Calle 4b No. 36-00, Cali, Colombia.
Luis Enrique
LE
Meza-Escobar
Universidad Icesi, Centro de investigacion en anomalias congenitas y enfermedades raras (CIACER), Calle 18 No. 122-135 Edificio Valle de Lili, 5to piso, Pance, Cali, Colombia.
Vania Alexandra
VA
Villota-Delgado
Fundación Valle del Lili, Av. Simón Bolívar. Cra 98 # 18-49, Cali, Colombia.
Adriana
A
Ballesteros
Fundación Valle del Lili, Av. Simón Bolívar. Cra 98 # 18-49, Cali, Colombia.
Ivan
I
Padilla
Fundación Valle del Lili, Av. Simón Bolívar. Cra 98 # 18-49, Cali, Colombia.
Diana
D
Duarte
ABCA3; Birth defect; Pulmonary surfactants
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