Table 1

Mutation and clinical data on patients with CS-A

CodeCountry
(origin)
SexAge at onset, yearsAge at biopsy (latest
report
or death*),
years
Clinical
classification
Mutation
genomic
DNA
Mutation
cDNA
Protein
alteration
Growth failureLow birth weightCachexia/bird-like facesMental retardation*Microcephaly†Cataracts†MicrophthalmiaRetinal degeneration‡Hearing lossClinical photosensitivityFitzpatrick Skin Type ScaleDental anomaliesArthrogryposisReference*
Homozygotes
CS15PVMoroccoM1.510 (14)Ic.37G>Tr.(37g>u)p.(Glu13*)++++++++
CS2JEIsrael (Ukraine)M0.511 (13)Ir.37g>up.Glu13*+ ++++OA
CS218STIndiaM0.713*Ic.37G>Tr.37g>up.Glu13*+ +SP++IV 6
CS1LEUK (Pakistan)M0.39IRearrangement involving part
of intron 2 and exon 3
r.78_275del
(exons 2–3)
p.Val27_Arg92del+ +M++
CS30PVItalyM0.20.8Ic.162delTr.162delup.Glu55Lysfs*13+++++ 49
CS4PVItalyM0.23 (6)IIc.223_227delr.223_227delp.Asn75Glnfs*9+++S+C++
CS2NGJapanMc.[275+703_399+347 del; 399+348_399+2007 inv; 399+2008_399+2558
delins8] (large deletion of exon
4 and inversion in intron 4)
r.276_399
del (exon 4)
p.Asp93Leufs*26
CS3NGJapanM
CS28NGJapanM
CS29NGJapanM
CS30NGJapanM
CS37NGJapanM
CS2OSJapanM 40
CS2AWJapanM 40
CS263STFrance (Turkey)M0.66Ic.316C>Tr.(316c>u)p.(Gln106*)++SP++IV+
CS261STTunisiaM011I/IIc.400-2A>Gr.400_481del (exon 5)p.Thr134Leufs*13+++SCC++IV+
CS133NYUSAM2(32*)I/IIIc.479C>T
(third to last nt of exon 5)
r.400_481del (exon 5)p.Thr134Leufs*13++++++++ 50
51
CS1BRFranceMc.481G>Ar.[481g>a;
481_482ins481+1_481+4 (part of intron 5)]
p.Val161Serfs*5
CS165STFrance (Turkey)MM02IIc.481+1G>Cr.?p.?+SPC+IV
CS24PVM5c.598_600delinsAAr.598_600delinsaap.Tyr200Lysfs*12
CS1GLO (CS192ST)UK (Libya)M07Ic.598_600delinsAAr.598_600delinsaap.Tyr200Lysfs*12++++
CS7PVItalyM0.14 (9*)IIc.719–1G>Ar.719_843del (exon 9)p.Ala240Glyfs*8+++S+C+
CS276STFranceM?15III ?c.730C>Tr.(730c>u) p.(His244Tyr) +S++II+ 52
CS172STFranceM014*IIc.752delTr.752delup.Leu251Tyrfs*18++SPC + ++III+
CS260STFranceM028III ?c.793A>Cr.793a>c p.Thr265Pro ++M+++II 52
CS240STIndiaM06I/IIc.802C>Tr.(802c>u)p.(Arg268*)+++SC ++V+
CS3BRUKM0.52 (6*)IIr.812u>c p.Leu271Pro ++S+ + ++
CS9IAFIsrael (Arab)M3Ic.966C>Ar.[966c>a,
844_1041del (exon10),844_1122del
(exons 10–11)]
p.[Tyr322*,
Val282_Gln347del,
Val282_Glu374del]
+++
CS5IAFIsrael (Arab)M0.56Ic.966C>Ar.[966c>a,844_1041del
(exon10)]
p.[Tyr322*,
Val282_Gln347del]
++++++
GM02965USAM1325IIIr.1049a>g p.Tyr350Cys ++mild+ 53
Compound heterozygotes
CCS4JapanFFc.[2T>A];[275+703_399+347 del; 399+348_399+2007 inv; 399+2008_399+2558
delins8
(large deletion
of exon 4 and
inversion in intron 4)]
r.[?];[(276_399 del
(exon 4))]
p.[?];[(Asp93Leufs*26)]++mild+MildMild 54
CS9LOUKFF1I/IIc.[282delT];[c.481G>A]r.[282delu];[481g>a;481_482
ins481+1_481+4
(part of intron 5)]
p.[Pro95Leufs*30];[Val161Serfs*5]++S + ++
CS11PVItalyMM2.5Ic.[300C>G];[c.399+10 773_550+837
(deletion spanning
from intron 4 to intron 6)]
r.[300C>G];
[400_550del
(exons 5–6)]
p.[Tyr100*];[Thr134Valfs*7]+ ++ + +OA+ 55
CS040STFranceFF2Ic.[356C>T(;)618–1G>A]r.[(356c>u)(;)
(618_626del)]
p.[(Ser119Leu)(;)
(Ala207_Ser209del]
++MP+++II+ 52
CS6PVItalyFF0.8Ir.[400_481del (exon 5];
[400_550del
(exons 5–6)]
p.[Thr134Leufs*13];
[Thr134Valfs*7]
++++++
CS16PVItalyFF0.2Ic.[594_595insAT];[659C>G]r.[594_595insau];
[659c>g]
p.[Asp199Metfs*14];
[Ser220*]
+++++++++
CS309STFranceMM0.25Ic.[611C>A];[1122+1delG]r.[(611c>a)];[?] p.[(Thr204Lys)];[?]++M++III 52
CS1JEIsrael (Tunisia/
Algeria)
FFIc.(618–1G>A];[?]r.[618_626del
(first 9 nt of exon 8)];[0]
p.[Ala207_Ser209del];[0]++++++
CS291STFranceFF0.3Ic.[927delT];[1041+1G>T]r.[(927delu)];[?]p.[Phe309Leufs*19];[?]++SPC+III+ 52
  • Details of 39 patients with CS-A are summarised. Nucleotide numbering starts with the A of the ATG translation initiation site as nucleotide 1. Mutation nomenclature follows the format indicated at http://varnomen.hgvs.org/. Protein alterations are deduced from the DNA changes.

  • *Patients CS291ST, CS040ST, CS309ST, CS276ST, CS260ST correspond to cases 5, 6, 7, 8, 9, respectively in Ref 39 from NC and VL and we include them as new mutations in figure 1.

  • C, congenital; M, moderate; OA, optic atrophy; P, progressive; S, severe.