TABLE 2.

Examples of studies using whole exome sequencing to uncover the genetic etiology of unclassified IBMFS.

Disorder/Clinical Features	Inheritance: Gene	Biological pathway	Reference
Primary neutropenia and thrombocytopenia, oculocutaneous albinism, inflammatory bowel disease	AR: SLC45A2 AR: G6PC3	SLC45A2: Transcription factor involved in trafficking of melanocyte-specific proteins to melanosomes G6PC3: Encodes enzyme involved in glucose-6-phosphate hydrolysis, maintenance of neutrophil viability and regulation of spontaneous neutrophil apoptosis	Culliane et al. (2011)(88)
MonoMAC syndrome: Monocytopenia, severe infections with nontuberculous Mycobacteria, pulmonary alveolar proteinosis; Emberger syndrome; familial MDS/AML	AD: GATA2	Transcription factor involved in development and proliferation of hematopoietic and endocrine cell lineages	Hsu et al. (2011)(91)
Bone marrow failure, congenital nerve deafness, MDS	AD: SRP72	Transcription factor involved in intracellular translocation of proteins by endoplasmic reticulum	Kirwan et al. (2012)(89)
Familial aplastic anemia presenting as undiagnosed congenital amegakaryocytic thrombocytopenia	AR: MPL	Encodes TPO receptor involved in megakaryopoiesis and HSC maintenance	Walne et al. (2012)(90)
Congenital neutropenia, primary myelofibrosis and bone marrow failure in infancy, bony abnormalities, nephromegaly	AR: VPS45	Transcription factor involved in regulation of endosomal system	Stephensky et al. (2013)(92)
Thrombocytopenia, fair hair and skin	AR: SBF2	Biological pathway unknown.	Abuzenadah et al. (2013)(93)

Abbreviations: MDS, myelodysplastic syndrome; AD, autosomal dominant; AR, autosomal recessive; HSC, hematopoietic stem cell; WES, whole exome sequencing