# A Novel Variant of the LMAN1 Gene in Combined Factor V and Factor VIII Deficiency in a Saudi Female Child: A Case Report

## TL;DR

A five-year-old Saudi girl was found to have a rare blood disorder due to a new mutation in the LMAN1 gene, causing low levels of clotting factors.

## Contribution

A novel homozygous mutation in the LMAN1 gene is identified in a Saudi patient with combined factor V and factor VIII deficiency.

## Key findings

- A novel c.604C>T mutation in the LMAN1 gene was detected through whole exome sequencing.
- The patient exhibited prolonged PT, INR, and aPTT with low factor V and factor VIII levels.
- The mutation confirms a diagnosis of combined factor V and factor VIII deficiency in the child.

## Abstract

Combined factor V and factor VIII deficiency (F5F8D) is an exceedingly rare autosomal recessive disease that causes concomitantly low levels of factor V and factor VIII, leading to mild to moderate bleeding tendencies. Within this disorder, mutations manifest in the lectin mannose-binding protein (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) genes. This report presents a case of a five-year-old Saudi female child who was referred from an otolaryngology clinic, with an incidental finding of prolonged prothrombin time (PT), international normalized ratio (INR), and activated partial thromboplastin time (aPTT) detected during routine preoperative investigations for tonsillectomy, prompting further investigations. There was no prior history of bleeding symptoms in the patient. She was discovered to have low assays of factor V and factor VIII on subsequent investigations. Whole exome sequencing revealed the novel homozygous mutation c.604C>T in the LMAN1 gene, validating the diagnosis of F5F8D.