Table 2.

Identification of novel gene and novel mode of inheritance for known genes in Tunisian consanguineous families.

Identification strategy		Mutation	Protein expression	Functional consequences	Reference
Novel gene
PGM3	Homozygosity mapping/linkage analysis and selector-based sequencing	c.1018_1020del (Hypomorphic)	Reduced	Reduced PGM3 enzymatic activity	(27)
		c.248T>C (Hypomorphic)
Novel mode of inheritance
FAS	Sanger sequencing	c.1017A>G (Loss of function)	Present	Resistance to Fas-mediated cell death	(25)
		c.581C>T (Loss of function)
TCF3	Whole exome sequencing	c.808C>T (Loss of function)	Absent	Hypogammaglobulinemia	(22)