Table 2

Mutation and clinical data on patients witlh CS-B

CodeCountry
(origin)
SexAge at onset, yearsAge at biopsy (latest report or death*), yearsClinical classificationMutation genomic DNAMutation cDNAProtein alterationGrowth failureLow birth weightCachexia/bird-like facesMental retardation*Microcephaly†Cataracts†MicrophthalmiaRetinal degeneration*DeafnessClinical photosensitivityFitzpatrick Skin Type ScaleDental anomaliesArthogryposisReference§
Homozygotes
CS18BRGermanyM3Ic.212delCr.212delcp.Leu72Cysfs*12+ +
CS3SHUKF9c.466C>Tr.466c>u,423_
543del (exon 3)
p.Gln156*,
Ser142Asnfs*4
++
CS14LOUKF623Ic.466C>Tr.466c>u,423_
543del (exon 3)
p.Gln156*,
Ser142Asnfs*4
++M+++
CS27PVItalyM1.26.5Ic.526C>Tr.526c>u,423_
543del (exon 3)
p.Arg176*,
Ser142Asnfs*4
++++
CS010STLebanon (Iraq)F5Ic.640G>Tr.(640g>u)p.(Glu214*)++SP+IV+
CS13PVItalyF0.42.5 (6)Ic.1070C>Gr.1070c>gp.Ser357*++++++++
CS201STIranM03IIc.1128delr.(1128del)p.(Thr377Glnfs*28)+++SP+ + +III+
CS10LOUK (Africa)F0.54Ic.1280dupTr.(1280dupu)p.(Ser429Lysfs*7)+++++
PiggyBac insertion at c.1397+6912 (in intron 5)
CS19PVItalyF01.5 (2.4*)IIc.1431_1432
delGA
r.1431_
1432delga
p.Lys478Thrfs*9++++C++
CS4TANTurkeyMIIc.1551G>Ar.1551g>ap.Trp517*+++++
CS8TANTurkeyFIIc.1551G>Ar.1551g>ap.Trp517*++++
CS35NGc.1627C>Tr.(1627c>u) p.(Ile543Phe)
CS107STSpain (India)F02.5IIc.1690G>Tr.(1690g>u)p.(Glu564*)+++SP++IV+
CS253STIndiaM03IIc.1936G>Ar.(1936g>a) p.(Asp646Asn) +++S++IV
CS1OXUKFc.1954C>Tr.1954c>up.Arg652*
CS13MAPakistanF0IIc.1954C>Tr.1954c>up.Arg652*+++++
CS232STFrance (Algeria)F03IIc.1971_1974dupr.(1971_1974dup)p.(Thr659Cysfs*24)+++S+CIII+
CS1PLUKM34IIIc.1993-5A>Gr.1992_1993
insauag
p.Phe665Tyrfs*18++
CS9TANTurkeyc.2038A>Gr.(2038a>g) p.(Asn680Asp)
CS1NEUKMc.2047C>Tr.2047c>up.Arg683*++ +
CS23PVItalyM0.34 (6)Ic.2143G>Tr.2143g>up.Gly715*++++++ + +
CS3BIUKIIIc.2167C>Tr.1993_2169del
(exon 10)
p.Phe665_Gln723del 56
CS11MAUKF01IIc.2167C>Tr.1993_2169del
(exon 10)
p.Phe665_Gln723del++++
CS22BRBrazilMc.2203C>Tr.2203c>up.Arg735*
CS12RO(Italy)M11c.2203C>Tr.2203c>up.Arg735*
CS17LOUK
(Turkey)
M13Ir.2203c>up.Arg735*+++
CS128STFrance (Bosnia)F0.7515Ic.2203C>Tr.2203c>up.Arg735*++MP+III+
CS7MAUKM00.5IIc.2222_2230delr.2222_2230del p.Tyr741_
Arg744delinsTrp
++++++++
CS8PVSri LankaM0.11 (4.5*)IIc.2279_2280insAr.2279_2280insap.Asn760Lysfs*2+++++++
CS144STIndia03.5IIc.2560C>Tr.(2560c>u)p.(Gln854*)++SC++IV+
CS31PVPakistanM02IIc.2599-26A>Gr.2598_2599
ins2599-25_
2599–1
(partial insertion
of intron 13)
p.Met867Thrfs*14++++++++++
CS20PVSenegalF00.5 (1.7*)IIc.2624T>Cr.2624u>c p.Leu875Pro ++++++++
CS11LOUKM0.50.5IIc.2830-2A>Gr.2830_2924
del (exon 16)
p.Ala944Thrfs*10++++++
CS23BRUK (?)M00.5IIc.2925–93_
3778+
527delinsTT
r.2925_3778
del (exon 17, 18)
p.Gln976Trpfs*70++
CS210ST (CS4BL)UKM01.5IIc.3052dupAr.(3052dupa)p.(Thr1018Asnfs*32)+++SCC + +
CS241STUKMc.3536delAr.(3536dela)p.(Tyr1179Leufs*22) + + +
CS25LOUK (Pakistan?)4c.3627_3628insTr.3627_3628insup.Lys1210* + + +++
CS270STIranF2c.3862C>Tr.(3862c>u)p.(Arg1288*) + + S+ + + +
CS071STIndiaM0.310Ic.4063–1G>Cr.(4062_4063
ins4063-139_
4063–1;
4063–1g>c
(partial insertion
of intron 20))
p.(Asp1355Valfs*32)++MP++V
CS204STIndiaM16III++MV+
CS221STIndiaM413III+++MP++V+
CS222STIndiaF8I++SP+V
CS27LOUK (Pakistan?)F00.5c.4180delAr.4180delap.Arg1394Glufs*6+S++
Compound heterozygotes
CS288STFrance (Reunion)F010IIc.[del exon1];
[2047C>T]
r.[?];[(2047c>u)]p.[?];[(Arg683*)]+++SCP+IV 52
CS195STFranceF04IIc.[(?_−176)_
(422+1_?)del];
[1834C>T]
r.[0];[1834c>u]p.[0];[Arg612*]++M+C++II
CS1PRUKF12c.[466C>T];
[2839C>T]
r.[466c>u,
423_543del
(exon 3)];
[2839c>u]
p.[Gln156*,
Ser142Asnfs*4];
[Arg947*]
+
CS225ST (CS16LO)UKF217I/IIIc.[466C>T];
[2599-26A>G]
r.[466c>u,
423_543del
(exon 3))];
[(2598_2599ins
2599-25_
2599–1
(partial insertion
of intron 13))]
p.[(Gln156*,
Ser142Asnfs*4)];
[(Met867Thrfs*14)]
++MPP++II+
CS5MAUKM2c.[466C>T];
[2839C>T]
r.[466c>u,
23_543del
(exon 3)];
[2839c>u]
p.[Gln156*,
Ser142Asnfs*4];
[Arg947*]
+ + + + +
CS2LEUKF33III?c.[466C>T];
[2203C>T]
r.[466c>u,
423_543del
(exon 3)];
[2203c>u]
p.[Gln156*,
Ser142Asnfs*4];
[Arg735*]
CS1SHUKF414Ic.[466C>T];
[1412_1413
delTG]
r.[466c>u,
423_543del
(exon 3)];
[1412_1413
delug]
p.[Gln156*,
Ser142Asnfs*4];
[Leu471Glnfs*16]
+ +
CS1SOUKF1.55 (14*)Ic.[526C>T];
[1954C>T]
r.[526c>u,
423_543del
(exon 3)];
[1954c>u]
p.[Arg176*,
Ser142Asnfs*4];
[Arg652*]
+++++++
CS1GOSwedenM0.59Ic.[526C>T];
[1765_1767
delTGG]
r.[526c>u,
423_543del
(exon 3)];
[1765_1767
delugg]
p.[Arg176*,
Ser142Asnfs*4];
[Trp589del]
++++++
CCS8Japan1IIc.[536_537insTA];
[1834C>T]
r.[(536_537insua)];
[(1834c>u)]
p.[(Asn180Ilefs*7)];
[(Arg612*)]
CS289STFranceM213Ic.[543G>T];
[543+4delA]
r.[423_543
del(exon 3)];
[423_543
del(exon 3)]
p.[Ser142Asnfs*4];
[Ser142Asnfs*4]
++MP+II+ 52
CS26PVItalyF136IIIc.[543+4delA];
[2203C>T]
r.[423_543
del (exon 3)];
[2203>u]
p.[Ser142Asnfs*4];
[Arg735*]
++++++++
CS250STFranceF02IIc.[818del];
[1397+2T>A]
r.[(818del)];[?]p.[(Lys273Serfs*56)];[?]+++S+C++II
CS148STSouth AfricaMI/IIc.[935_936delinsG];
[2167C>T]
r.[?];[(1993_2169del
(exon 10))].
p.[(?)];
[(Phe665_Gln723del)]
+SIII
CS1WRUKM1 (8*)IIc.[1357C>T];
[2286+1G>A]
r.[1357c>u];[2286_2287ins
2286+1_
2286+96;
2286+1 g>a
(partial insertion
of intron 11)]
p.[Arg453*];
[Val763Ilefs*7]
++++
PiggyBac insertion at c.1397+6912 (in intron 5)
CS233STFranceM02*IIc.[1518delG];
[2923C>T]
r.[(1518delg)];
[2923c>u)]
p.[(Lys506Asnfs*37)];
[(Arg975*)]
+++SCC++II+
CS058ST (CS2LI)UKF10Ic.[1526+1G>T];
[3952_3953delAG]
r.[1398_1684del
(exons 6–7)];
[3952_3953delag]
p.[Arg467_Arg562del];
[Arg1318Glyfs*12]
+M++I
CS18NGJapanIIc.[1583G>A];
[1834C>T]
r.[(1583g>a)];
[(1834c>u)]
p.[(Gly528Glu)];
[(Arg612*)]
CS18PVItalyM01.7 (2.6*)IIc.[1685+6T>G];
deletion including
exons 9 and 10
r.[1527_1685
del (exon 7)];
[1822_2169del
(exons 9–10)]
p.[Tyr510_Arg562del];
[Glu608_Gln723del]
+++++C+
CS17PVItalyF0.61.1 (2.9*)I/IIc.(1686–1G>A];
[c.2827C>T]
r.[1686_1821
del (exon 8)];[2827c>u,
2826_2829del,
2710_2829
del (exon 15)]
p.[Phe563Argfs*3];[Gln943*,
Gln943Profs*8,
Asp904_Gln943del]
++++C++++
CS25PVItalyMc.[? (deletion
including exon 8)];
[2203C>T]
r.[1686_1821del
(exon 8)];
[2203c>u]
p.[Phe563Argfs*3];
[Arg735*]
CS10MAUKF0.41.5c.[1834C>T];
[2167C>T]
r.[0];[1993_2169
del
(exon 10)]
p.[0];[Phe665_
Gln723del]
++++++
CS1LIUKM01.5IIc.[1939G>A];
[2167C>T]
r.[0];[1993_2169
del
(exon 10)]
p.[0];[Phe665_
Gln723del]
++++++
CS18LOUKF00.1IIc.[2008C>T];
[2287-2A>G]
r.[2008c>u];
[2287_2382del
(exon 12)]
p.[Arg670Trp];
[Val763_Gln794del]
++++
CS32LOUKFc.[2047C>T];
[3862C>T]
r.[2047c>u];
[3862 c>u]
p.[Arg683*];
[Arg1288*]
+
CS12MAUKM0IIc.[2047C>T];
[2167C>T]
r.[2047c>u];
[1993_2169del
(exon 10)]
p.[Arg683*]
;[Phe665_Gln723del]
+++
CS1GGOGermanyMIIc.[2060C>T];
[2203C>T
r.[2060c>u];
[2203 c>u]
p.[Ser687Leu];
[Arg735*]
++
CS278STFranceM03IIc.[2060C>T];
[3862C>T]
r.[(2060c>u)];[(3862c>u)]p.[(Ser687Leu)];
[Arg1288*]
+++S+C++II+ 52
CS3BLUKM11c.[2092_2093insG];
[2857C>A]
r.[1993_2169del
(exon 10)];
[2857c>a]
p.[Phe665_Gln723del];
[Gln953Lys]
CS22PVItalyM0.53 (5)Ic.[2096_2097insC];
[2203C>T]
r.[2096_2097insc];
[2203c>u]
p.[Leu700Valfs*60];
[Arg735*]
+++++OA+
CS28PVItalyM34.5Ic.[2096_2097insC];
[2203C>T]
r.[2096_2097insc];
[2203c>u]
p.[Leu700Valfs*60];
[Arg735*]
+++++
CS2BLUKF0c.[2143G>T];
[2167C>T]
r.[0)];
[1993_2169del
(exon 10)]
p.[0];
[Phe665_Gln723del]
++
CS26LOUKFc.[2167C>T];
[2092_2093insG]
r.[1993_2169del
(exon 10)];
[1993_2169del
(exon 10)]
p.[Phe665_Gln723del];
[Phe665_Gln723del]
CS8MAUKM01IIc.[2167C>T];
[3661C>T]
r.[1993_2169del
(exon 10)];
[3661c>u]
p.[Phe665_Gln723del];
[Arg1221*]
+++++++
CS19LOUKM0IIc.[2167C>T];
[3259C>T]
r.[1993_2169del
(exon 10)];
[3259c>u]
p.[Phe665_Gln723del];
[Arg1087*]
+++
CS19BRUKF1IIc.[2167C>T];
[2776G>C]
r.[(1993_2169
del(exon 10))];
[(2776g>c)]
p.[Phe665_Gln723del];
[(Ala926Pro)]
++++++
CS215STUKM00.6*IIc.(2170–1G>A];
[2599-26A>G]
r.[(2170_2286
del (exon 11))];
[(2598_2599
ins2599-25_2599–1
(partial insertion
of intron 13))]
p.[?];[(Met867Thrfs*14)]+++SCC++++
CS2GRAustriaF015Ic.[2203C>T];
[3607_3608ins26]
r.[2203c>u];
[3607_3608ins26]
p.[Arg735*];
[Lys1203fs]
+++++++
CS14PVItalyM13.5 (5)Ic.[2203C>T];
[? (deletion of about 5.5 Mb in 10q11.2)]
r.[2203c>u];[0]p.[Arg735*];[0]+++++
CS21PVItalyF121 (27)Ic.[2551T>C];
[3952_3953delAG]
r.[2551u>c];
[3952_3953delag]
p.[Trp851Arg];
[Arg1318Glyfs*12]
+++++++
CS286STFrance (Algeria)M04I/IIc.[2599-26A>G];
[4115delG]
r.[(2598_2599
ins2599-
25_2599–1
(partial insertion
of intron 13))];
[(4115delg)]
p.[(Met 867Thrfs*14)];
[(Gly1372Glufs*22)]
++MPCII 52
CS1BELUKF7 (18*)c.[2830-2A>G];
[3536delA]
r.[2830_2924del
(exon 16)];
[3536dela]
p.[Ala944Thrfs*10];
[Tyr1179Leufs*22]
+++
  • Details of 85 patients with CS-B are summarised. Nucleotide numbering starts with the A of the ATG translation initiation site as nucleotide 1.  The position of the PiggyBac insertion is indicated. Mutation nomenclature follows the format indicated at http://varnomen.hgvs.org/.

  • *Patients CS288ST, CS286ST, CS278ST, CS289ST correspond to cases 1, 2, 3 and 4, respectively in Ref 39 from NC and VL and we include them as new mutations in figure 3.

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