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Table 2 Summary of molecular genetic findings for select individuals

From: Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities

Ind

Sex

Molecular Effect

Amino acid substitution

GPX4 variant

18

M

NS

p.(Tyr127*)

Not available for affected child

    

GPX4(NM_001039848.1):c.381C > A both parents

19

F

FS

Exon 4 splice error

GPX4(NM_001039848.1):c.587 + 5G > A;

  

PT

Exon 5 skip

GPX4(NM_001039848.1):c.588-8_588-4del

20

M

FS

p.(His52fs*1)

GPX4(NM_002085.4):c.153_160del

21

F

FS

p.(His52fs*1)

GPX4(NM_002085.4):c.153_160del

22

M

NS

(p.(Gly148Argfs*?));

GPX4(NM_001039848.1):c.441dup maternal;

   

(p.(Pro138Arg))

GPX4(NM_001039848.1):c.413C > G paternal

23

F

MS

p.Arg152His

GPX4(NM_001039848.2):c.647G > A;homozygous

24

M

MS

p.Arg152His

GPX4(NM_001039848.2):c.647G > A, homozygous

25

M

MS

p.Arg152His

GPX4(NM_001039848.2):c.647G > A, homozygous

  1. NS, nonsense; MS, missense; FS, frame shift; PT, premature truncation. When available, variants are listed from the individuals in question, and are listed from parents when noted. References included in Table 1