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Table 2 Novel PRPF31 mutations in a French adRP cohort.

From: Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

Index (families)

Exon

Nucleotide Exchange

Protein Effect

Information about Penetrance

CIC00398 (F273)

4

c.269_273del

p.Tyr90CysfsX21

incomplete

CIC00607 (F405)

Int6

c.527+2T>C

splice defect

incomplete

CIC00034 (F28)

7

c.666dup

p.Ile223TyrX56

segregates (1 affected show mutation, 3 unaffected no mutation)

CIC03777 (F1706)

8

c.709_734dup

p.Cys247X

incomplete

CIC01171 (F700)

9

c. 873_897dup

p.Thr300GlyfsX32

incomplete

CIC00140 (F108)

10

c.997delG

p.Glu333SerfsX5

incomplete

  1. Mutations are indicated according to NM_015629.3 by using the recommendations of human genome variation society: http://www.hgvs.org/rec.html.
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BMC Medical Genetics

ISSN: 1471-2350

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