Table 1.

Identified candidate variants following the recessive inheritance model

Chr	Position	Reference allele	Mutated allele	Gene	Amino acid change	Affected		Unaffected
						Ind. 05	Ind. 06	Ind. 02 (Father)	Ind. 01 (Mother)	Ind. 04
5	139931629	C	G	SRA1	V110L (rs117757312)	34	21	30	39	NA
11	64506903	C	A	RASGRP2	G248W	36	24	18	41	15
11	66458798	C	T	SPTBN2	R1841Q	21	13	9	21	8
11	67209291	C	G	CORO1B	E123Q	14	14	7	15	6

Reads depth of the identified variants that passed the whole-exome filtering strategy consisting of selecting candidate variants that were nonsynonymous variants, frameshifts/insertions/deletions affecting coding regions, that were absent or reported at a low frequency (<1‰) in public databases (including the 1000 Genomes project and the Exome Variant Server), and that were found in the homozygous state in the two affected siblings (with a minimum depth of 10X) but which were heterozygous in the two unaffected parents. NA indicates that the individual is not carrying the identified variant.