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Table 1 Family information

From: Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

Family

Consanguineous parents

Ethnic origin

Number of affected children

AMN

   

Family 1

   

c.208-2A>G A /c.208-2A>G A

yes

Turkish

1

(p.Leu70Alafs)

   

Family 2

   

c.208-2A>G A /c.208-2A>G A

yes

Tunesian

2

(p.Leu70Alafs)

   

Family 3

   

c.1006 + 11_1008del/

   
 

yes

Moroccan

1

c.1006 + 11_1008del

   

(p.Glu337Asnfs)

   

Family 4

   

c.1041_1042delinsCTC/

   
 

no

Italian

2

c.208-2A>G A

   

(p.Glu348Serfs/p.Leu70Alafs)

   

CUBN

   

Family 5

   

c.3335G>A/c.3335G>A

yes

Tunesian

2

(p.Gly1112Glu)

   

Family 6

   

c.3890C>T/c.3890C>T B

no

Finnish

1

(p. Pro1297Leu)

   
  1. Table 1 summarises the families included in the study with identified mutations, family background and number of affected children.
  2. APreviously described as c.208-2A>G, skipping of exon 4, fs[5]. BPreviously described by [4]. Paternal/maternal allele.
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BMC Medical Genetics

ISSN: 1471-2350

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