Code | Country (origin) | Sex | Age at onset, years | Age at biopsy (latest report or death*), years | Clinical classification | Mutation genomic DNA | Mutation cDNA | Protein alteration | Growth failure | Low birth weight | Cachexia/bird-like faces | Mental retardation* | Microcephaly† | Cataracts† | Microphthalmia | Retinal degeneration* | Deafness | Clinical photosensitivity | Fitzpatrick Skin Type Scale | Dental anomalies | Arthogryposis | Reference§ |
Homozygotes | ||||||||||||||||||||||
CS18BR | Germany | M | 3 | I | c.212delC | r.212delc | p.Leu72Cysfs*12 | + | – | – | – | – | – | – | + | |||||||
CS3SH | UK | F | 9 | c.466C>T | r.466c>u,423_ 543del (exon 3) | p.Gln156*, Ser142Asnfs*4 | + | + | ||||||||||||||
CS14LO | UK | F | 6 | 23 | I | c.466C>T | r.466c>u,423_ 543del (exon 3) | p.Gln156*, Ser142Asnfs*4 | + | + | M | + | + | + | – | |||||||
CS27PV | Italy | M | 1.2 | 6.5 | I | c.526C>T | r.526c>u,423_ 543del (exon 3) | p.Arg176*, Ser142Asnfs*4 | – | – | + | + | + | – | – | – | + | – | – | |||
CS010ST | Lebanon (Iraq) | F | 5 | I | c.640G>T | r.(640g>u) | p.(Glu214*) | + | – | + | S | P | – | – | + | IV | + | – | ||||
CS13PV | Italy | F | 0.4 | 2.5 (6) | I | c.1070C>G | r.1070c>g | p.Ser357* | + | – | + | + | + | + | + | + | + | |||||
CS201ST | Iran | M | 0 | 3 | II | c.1128del | r.(1128del) | p.(Thr377Glnfs*28) | + | + | + | S | P | + | – | + | + | III | + | – | ||
CS10LO | UK (Africa) | F | 0.5 | 4 | I | c.1280dupT | r.(1280dupu) | p.(Ser429Lysfs*7) | + | – | + | + | + | – | – | – | + | |||||
PiggyBac insertion at c.1397+6912 (in intron 5) | ||||||||||||||||||||||
CS19PV | Italy | F | 0 | 1.5 (2.4*) | II | c.1431_1432 delGA | r.1431_ 1432delga | p.Lys478Thrfs*9 | + | – | + | + | + | C | + | – | – | + | – | – | ||
CS4TAN | Turkey | M | II | c.1551G>A | r.1551g>a | p.Trp517* | + | + | + | + | + | |||||||||||
CS8TAN | Turkey | F | II | c.1551G>A | r.1551g>a | p.Trp517* | + | + | + | + | ||||||||||||
CS35NG | c.1627C>T | r.(1627c>u) | p.(Ile543Phe) | |||||||||||||||||||
CS107ST | Spain (India) | F | 0 | 2.5 | II | c.1690G>T | r.(1690g>u) | p.(Glu564*) | + | + | + | S | P | – | – | + | + | IV | + | – | ||
CS253ST | India | M | 0 | 3 | II | c.1936G>A | r.(1936g>a) | p.(Asp646Asn) | + | + | + | S | + | – | + | – | IV | – | – | |||
CS1OX | UK | F | c.1954C>T | r.1954c>u | p.Arg652* | |||||||||||||||||
CS13MA | Pakistan | F | 0 | II | c.1954C>T | r.1954c>u | p.Arg652* | + | + | + | + | + | ||||||||||
CS232ST | France (Algeria) | F | 0 | 3 | II | c.1971_1974dup | r.(1971_1974dup) | p.(Thr659Cysfs*24) | + | + | + | S | + | C | – | – | III | + | ||||
CS1PL | UK | M | 34 | III | c.1993-5A>G | r.1992_1993 insauag | p.Phe665Tyrfs*18 | + | + | – | – | – | ||||||||||
CS9TAN | Turkey | c.2038A>G | r.(2038a>g) | p.(Asn680Asp) | ||||||||||||||||||
CS1NE | UK | M | c.2047C>T | r.2047c>u | p.Arg683* | + | + | + | ||||||||||||||
CS23PV | Italy | M | 0.3 | 4 (6) | I | c.2143G>T | r.2143g>u | p.Gly715* | + | – | + | + | + | + | – | + | + | – | + | |||
CS3BI | UK | III | c.2167C>T | r.1993_2169del (exon 10) | p.Phe665_Gln723del | 56 | ||||||||||||||||
CS11MA | UK | F | 0 | 1 | II | c.2167C>T | r.1993_2169del (exon 10) | p.Phe665_Gln723del | + | + | + | + | ||||||||||
CS22BR | Brazil | M | c.2203C>T | r.2203c>u | p.Arg735* | |||||||||||||||||
CS12RO | (Italy) | M | 11 | c.2203C>T | r.2203c>u | p.Arg735* | ||||||||||||||||
CS17LO | UK (Turkey) | M | 13 | I | r.2203c>u | p.Arg735* | + | – | + | + | ||||||||||||
CS128ST | France (Bosnia) | F | 0.75 | 15 | I | c.2203C>T | r.2203c>u | p.Arg735* | + | – | + | M | P | – | – | – | – | + | III | + | – | |
CS7MA | UK | M | 0 | 0.5 | II | c.2222_2230del | r.2222_2230del |
p.Tyr741_ Arg744delinsTrp | + | + | + | + | + | + | + | + | ||||||
CS8PV | Sri Lanka | M | 0.1 | 1 (4.5*) | II | c.2279_2280insA | r.2279_2280insa | p.Asn760Lysfs*2 | + | + | + | + | + | + | + | |||||||
CS144ST | India | 0 | 3.5 | II | c.2560C>T | r.(2560c>u) | p.(Gln854*) | + | + | S | C | – | – | + | + | IV | + | |||||
CS31PV | Pakistan | M | 0 | 2 | II | c.2599-26A>G | r.2598_2599 ins2599-25_ 2599–1 (partial insertion of intron 13) | p.Met867Thrfs*14 | + | + | + | + | + | + | + | – | + | – | + | + | ||
CS20PV | Senegal | F | 0 | 0.5 (1.7*) | II | c.2624T>C | r.2624u>c | p.Leu875Pro | + | + | + | + | + | + | + | – | + | |||||
CS11LO | UK | M | 0.5 | 0.5 | II | c.2830-2A>G | r.2830_2924 del (exon 16) | p.Ala944Thrfs*10 | + | + | + | + | + | + | ||||||||
CS23BR | UK (?) | M | 0 | 0.5 | II | c.2925–93_ 3778+ 527delinsTT | r.2925_3778 del (exon 17, 18) | p.Gln976Trpfs*70 | + | + | ||||||||||||
CS210ST (CS4BL) | UK | M | 0 | 1.5 | II | c.3052dupA | r.(3052dupa) | p.(Thr1018Asnfs*32) | + | + | + | S | C | C | – | + | – | + | – | |||
CS241ST | UK | M | c.3536delA | r.(3536dela) | p.(Tyr1179Leufs*22) | + | + | + | ||||||||||||||
CS25LO | UK (Pakistan?) | 4 | c.3627_3628insT | r.3627_3628insu | p.Lys1210* | + | – | + | + | + | + | |||||||||||
CS270ST | Iran | F | 2 | c.3862C>T | r.(3862c>u) | p.(Arg1288*) | + | – | + | S | + | + | + | + | ||||||||
CS071ST | India | M | 0.3 | 10 | I | c.4063–1G>C | r.(4062_4063 ins4063-139_ 4063–1; 4063–1g>c (partial insertion of intron 20)) | p.(Asp1355Valfs*32) | + | – | + | M | P | – | – | + | – | + | V | – | ||
CS204ST | India | M | 16 | III | + | – | + | M | V | + | – | |||||||||||
CS221ST | India | M | 4 | 13 | III | + | + | + | M | P | – | – | + | – | + | V | + | – | ||||
CS222ST | India | F | 8 | I | + | + | S | P | + | V | ||||||||||||
CS27LO | UK (Pakistan?) | F | 0 | 0.5 | c.4180delA | r.4180dela | p.Arg1394Glufs*6 | + | S | + | + | |||||||||||
Compound heterozygotes | ||||||||||||||||||||||
CS288ST | France (Reunion) | F | 0 | 10 | II | c.[del exon1]; [2047C>T] | r.[?];[(2047c>u)] | p.[?];[(Arg683*)] | + | + | + | S | C | P | + | IV | – | 52 | ||||
CS195ST | France | F | 0 | 4 | II | c.[(?_−176)_ (422+1_?)del]; [1834C>T] | r.[0];[1834c>u] | p.[0];[Arg612*] | + | – | + | M | + | C | – | – | + | + | II | |||
CS1PR | UK | F | 1 | 2 | c.[466C>T]; [2839C>T] | r.[466c>u, 423_543del (exon 3)]; [2839c>u] | p.[Gln156*, Ser142Asnfs*4]; [Arg947*] | + | – | |||||||||||||
CS225ST (CS16LO) | UK | F | 2 | 17 | I/III | c.[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)] | + | – | + | M | P | P | – | + | + | II | + | – | ||
CS5MA | UK | M | 2 | c.[466C>T]; [2839C>T] | r.[466c>u, 23_543del (exon 3)]; [2839c>u] | p.[Gln156*, Ser142Asnfs*4]; [Arg947*] | + | – | + | + | + | + | ||||||||||
CS2LE | UK | F | 33 | III? | c.[466C>T]; [2203C>T] | r.[466c>u, 423_543del (exon 3)]; [2203c>u] | p.[Gln156*, Ser142Asnfs*4]; [Arg735*] | |||||||||||||||
CS1SH | UK | F | 4 | 14 | I | c.[466C>T]; [1412_1413 delTG] | r.[466c>u, 423_543del (exon 3)]; [1412_1413 delug] | p.[Gln156*, Ser142Asnfs*4]; [Leu471Glnfs*16] | + | – | – | – | – | – | + | |||||||
CS1SO | UK | F | 1.5 | 5 (14*) | I | c.[526C>T]; [1954C>T] | r.[526c>u, 423_543del (exon 3)]; [1954c>u] | p.[Arg176*, Ser142Asnfs*4]; [Arg652*] | + | – | + | + | + | – | – | + | + | + | ||||
CS1GO | Sweden | M | 0.5 | 9 | I | c.[526C>T]; [1765_1767 delTGG] | r.[526c>u, 423_543del (exon 3)]; [1765_1767 delugg] | p.[Arg176*, Ser142Asnfs*4]; [Trp589del] | + | + | + | – | – | + | + | + | ||||||
CCS8 | Japan | 1 | II | c.[536_537insTA]; [1834C>T] | r.[(536_537insua)]; [(1834c>u)] | p.[(Asn180Ilefs*7)]; [(Arg612*)] | ||||||||||||||||
CS289ST | France | M | 2 | 13 | I | c.[543G>T]; [543+4delA] | r.[423_543 del(exon 3)]; [423_543 del(exon 3)] |
p.[Ser142Asnfs*4]; [Ser142Asnfs*4] | + | – | + | M | P | – | – | – | – | + | II | + | – | 52 |
CS26PV | Italy | F | 1 | 36 | III | c.[543+4delA]; [2203C>T] | r.[423_543 del (exon 3)]; [2203>u] | p.[Ser142Asnfs*4]; [Arg735*] | + | + | + | + | + | + | + | + | – | |||||
CS250ST | France | F | 0 | 2 | II | c.[818del]; [1397+2T>A] | r.[(818del)];[?] | p.[(Lys273Serfs*56)];[?] | + | + | + | S | + | C | + | + | – | II | – | |||
CS148ST | South Africa | M | I/II | c.[935_936delinsG]; [2167C>T] | r.[?];[(1993_2169del (exon 10))]. | p.[(?)]; [(Phe665_Gln723del)] | + | S | III | |||||||||||||
CS1WR | UK | M | 1 (8*) | II | c.[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) | ||||||||||||||||||||||
CS233ST | France | M | 0 | 2* | II | c.[1518delG]; [2923C>T] | r.[(1518delg)]; [2923c>u)] | p.[(Lys506Asnfs*37)]; [(Arg975*)] | + | + | + | S | C | C | + | – | + | II | + | – | ||
CS058ST (CS2LI) | UK | F | 10 | I | c.[1526+1G>T]; [3952_3953delAG] | r.[1398_1684del (exons 6–7)]; [3952_3953delag] | p.[Arg467_Arg562del]; [Arg1318Glyfs*12] | + | M | – | + | + | I | – | ||||||||
CS18NG | Japan | II | c.[1583G>A]; [1834C>T] | r.[(1583g>a)]; [(1834c>u)] | p.[(Gly528Glu)]; [(Arg612*)] | |||||||||||||||||
CS18PV | Italy | M | 0 | 1.7 (2.6*) | II | c.[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 | + | – | – | |||||
CS17PV | Italy | F | 0.6 | 1.1 (2.9*) | I/II | c.(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 | + | + | + | – | – | + | ||
CS25PV | Italy | M | c.[? (deletion including exon 8)]; [2203C>T] | r.[1686_1821del (exon 8)]; [2203c>u] | p.[Phe563Argfs*3]; [Arg735*] | |||||||||||||||||
CS10MA | UK | F | 0.4 | 1.5 | c.[1834C>T]; [2167C>T] | r.[0];[1993_2169 del (exon 10)] | p.[0];[Phe665_ Gln723del] | + | + | + | + | – | + | – | – | + | ||||||
CS1LI | UK | M | 0 | 1.5 | II | c.[1939G>A]; [2167C>T] | r.[0];[1993_2169 del (exon 10)] | p.[0];[Phe665_ Gln723del] | + | – | + | + | + | + | + | |||||||
CS18LO | UK | F | 0 | 0.1 | II | c.[2008C>T]; [2287-2A>G] | r.[2008c>u]; [2287_2382del (exon 12)] | p.[Arg670Trp]; [Val763_Gln794del] | + | + | + | + | ||||||||||
CS32LO | UK | F | c.[2047C>T]; [3862C>T] | r.[2047c>u]; [3862 c>u] | p.[Arg683*]; [Arg1288*] | + | ||||||||||||||||
CS12MA | UK | M | 0 | II | c.[2047C>T]; [2167C>T] | r.[2047c>u]; [1993_2169del (exon 10)] | p.[Arg683*] ;[Phe665_Gln723del] | + | + | + | ||||||||||||
CS1GGO | Germany | M | II | c.[2060C>T]; [2203C>T | r.[2060c>u]; [2203 c>u] |
p.[Ser687Leu]; [Arg735*] | + | + | ||||||||||||||
CS278ST | France | M | 0 | 3 | II | c.[2060C>T]; [3862C>T] | r.[(2060c>u)];[(3862c>u)] | p.[(Ser687Leu)]; [Arg1288*] | + | + | + | S | + | C | + | + | – | – | II | + | – | 52 |
CS3BL | UK | M | 11 | c.[2092_2093insG]; [2857C>A] | r.[1993_2169del (exon 10)]; [2857c>a] |
p.[Phe665_Gln723del]; [Gln953Lys] | ||||||||||||||||
CS22PV | Italy | M | 0.5 | 3 (5) | I | c.[2096_2097insC]; [2203C>T] | r.[2096_2097insc]; [2203c>u] | p.[Leu700Valfs*60]; [Arg735*] | + | + | + | + | + | – | – | OA | – | – | + | – | ||
CS28PV | Italy | M | 3 | 4.5 | I | c.[2096_2097insC]; [2203C>T] | r.[2096_2097insc]; [2203c>u] | p.[Leu700Valfs*60]; [Arg735*] | + | + | + | + | – | – | + | – | ||||||
CS2BL | UK | F | 0 | c.[2143G>T]; [2167C>T] | r.[0)]; [1993_2169del (exon 10)] | p.[0]; [Phe665_Gln723del] | + | + | ||||||||||||||
CS26LO | UK | F | c.[2167C>T]; [2092_2093insG] | r.[1993_2169del (exon 10)]; [1993_2169del (exon 10)] | p.[Phe665_Gln723del]; [Phe665_Gln723del] | |||||||||||||||||
CS8MA | UK | M | 0 | 1 | II | c.[2167C>T]; [3661C>T] | r.[1993_2169del (exon 10)]; [3661c>u] | p.[Phe665_Gln723del]; [Arg1221*] | + | + | + | + | + | + | + | |||||||
CS19LO | UK | M | 0 | II | c.[2167C>T]; [3259C>T] | r.[1993_2169del (exon 10)]; [3259c>u] | p.[Phe665_Gln723del]; [Arg1087*] | + | – | + | + | |||||||||||
CS19BR | UK | F | 1 | II | c.[2167C>T]; [2776G>C] | r.[(1993_2169 del(exon 10))]; [(2776g>c)] | p.[Phe665_Gln723del]; [(Ala926Pro)] | + | + | + | + | + | + | |||||||||
CS215ST | UK | M | 0 | 0.6* | II | c.(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)] | + | + | + | S | C | C | – | + | + | + | + | |||
CS2GR | Austria | F | 0 | 15 | I | c.[2203C>T]; [3607_3608ins26] | r.[2203c>u]; [3607_3608ins26] | p.[Arg735*]; [Lys1203fs] | + | + | + | + | + | + | + | |||||||
CS14PV | Italy | M | 1 | 3.5 (5) | I | c.[2203C>T]; [? (deletion of about 5.5 Mb in 10q11.2)] | r.[2203c>u];[0] | p.[Arg735*];[0] | + | – | + | + | + | – | + | – | – | |||||
CS21PV | Italy | F | 1 | 21 (27) | I | c.[2551T>C]; [3952_3953delAG] | r.[2551u>c]; [3952_3953delag] |
p.[Trp851Arg]; [Arg1318Glyfs*12] | + | + | + | + | + | + | – | + | – | |||||
CS286ST | France (Algeria) | M | 0 | 4 | I/II | c.[2599-26A>G]; [4115delG] | r.[(2598_2599 ins2599- 25_2599–1 (partial insertion of intron 13))]; [(4115delg)] | p.[(Met 867Thrfs*14)]; [(Gly1372Glufs*22)] | + | – | + | M | P | C | – | – | – | – | II | – | – | 52 |
CS1BEL | UK | F | 7 (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.