Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran

Introduction: ABCA3 glycoprotein belongs to the ATP-binding cassette (ABC) superfamily of transporters, which utilize the energy derived from hydrolysis of ATP for the translocation of a wide variety of substrates across the plasma membrane. Mutations in the ABCA3 gene are knowingly causative for fatal surfactant deficiency, particularly respiratory distress syndrome (RDS) in term babies. Case Presentation: In this study, Sanger sequencing of the whole ABCA3 gene (NCBI NM_001089) was performed in a neonatal boy with severe RDS. A homozygous mutation has been identified in the patient. Parents were heterozygous for the same missense mutation GGA > AGA at position 202 in exon 6 of the ABCA3 gene (c.604G > A; p.G202R). Furthermore, 70 normal individuals have been analyzed for the mentioned change with negative results. Conclusions: Regarding Human Genome Mutation Database (HGMD) and other literature recherche, the detected change is a novel mutation and has not been reported before. Bioinformatics mutation predicting tools prefer it as pathogenic.

Flexor Digitorum Superficialis and Flexor Digitorum Profundus with separated sheaths, a new normal variation in human

Case description: A 25 years old man presented with a laceration on radial side of proximal phalanx of 4th finger (zone II flexor) which was due to cut with glass. Clinical findings: The sheaths of Tendons of flexor digitorum sperficialis and profundus were not the same and each tendon had a separate sheath. Treatment and outcome: The tendons were reconstructed by modified Kessler sutures, after 15 months the patient had a 30 degrees of extension lag even after physiotherapy courses. Clinical relevance: This is the first reported of such normal variation in human hand tendon anatomy.