. 2016 May 27;7:11601. doi: 10.1038/ncomms11601

Table 1. Clinical characteristics and SLC39A14 mutations identified in affected patients.

Subject	Gender	Method used to identify mutation	SLC39A14 mutation^*	Amino-acid change	Exon	Isoform	Country of origin	Age of onset	Current age	Whole-blood Mn (73–325 nmol l⁻¹)
A-II-1	F	S	c.[292T>G]; [292T>G]	p.[F98V]; [F98V]	3	1–3	Yemen	7 months	13 years	2,887
A-II-2	F	S	c.[292T>G]; [292T>G]	p.[F98V]; [F98V]	3	1–3	Yemen	6 months	^† (7 years)	NA
B-II-1	F	^‡	^‡	^‡	^‡	^‡	Egypt	7 months	^† (13 months)	NA
B-II-4	F	WES/S	c.[313G>T]; [313G>T]	p.[E105X], [E105X]	3	1–3	Egypt	7 months	3 years	8,101
C-II-2	F	S	c.[477_478del]; [477_478del]	p.[S160Cfs^5], [S160Cfs^5]	4B	2	India	3 years	6 years	963
D-II-1	M	WES/S	c.[1147G>A]; [1147G>A]	p.[G383R]; [G383R]	7	1–3	Spain	10 months	^† (4 years)	965^§
E-II-2	F	AM/S	c.[1407C>G]; [1407C>G]	p.[N469K]; [N469K]	9	1–3	Lebanon	2 years	17 years	2,280
E-II-3	F	AM/S	c.[1407C>G]; [1407C>G]	p.[N469K]; [N469K]	9	1–3	Lebanon	2 years	16 years	3,830
E-II-4	M	WES/AM/S	c.[1407C>G]; [1407C>G]	p.[N469K]; [N469K]	9	1–3	Lebanon	2 years	9 years	1,260

AM, autozygosity mapping; F, female; M, male; NA, not available; S, Sanger sequencing; WES, whole-exome sequencing.

Individual families are numbered A to E with each affected sibling listed.

^*All patients were from consanguineous families and were shown to be homozygous for the mutations detected. WES, AM, S, Nucleotide (c.) and amino-acid (p.) changes refer to transcript 2 (NM_015359.4) and protein isoform 2 (NP_056174.2) and are listed together with the exon and isoform affected.

^†Deceased, NA

^‡DNA of this subject was not available for mutation testing. Her clinical phenotype was similar to her sibling, suggesting that they were both affected by the same disorder. Normal reference range for whole-blood Mn is given in brackets.

^§Mn estimation performed in different hospital laboratory, reference range <145.6 nmol l⁻¹.