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‡ | Hearing loss | Clinical photosensitivity | Fitzpatrick Skin Type Scale | Dental anomalies | Arthrogryposis | Reference* |
Homozygotes | ||||||||||||||||||||||
CS15PV | Morocco | M | 1.5 | 10 (14) | I | c.37G>T | r.(37g>u) | p.(Glu13*) | + | – | + | + | + | + | + | – | – | + | + | |||
CS2JE | Israel (Ukraine) | M | 0.5 | 11 (13) | I | r.37g>u | p.Glu13* | + | – | + | + | + | + | OA | ||||||||
CS218ST | India | M | 0.7 | 13* | I | c.37G>T | r.37g>u | p.Glu13* | + | – | + | S | P | – | – | + | – | + | IV | – | – | 6 |
CS1LE | UK (Pakistan) | M | 0.3 | 9 | I | Rearrangement involving part of intron 2 and exon 3 | r.78_275del (exons 2–3) | p.Val27_Arg92del | + | – | + | M | + | + | ||||||||
CS30PV | Italy | M | 0.2 | 0.8 | I | c.162delT | r.162delu | p.Glu55Lysfs*13 | + | – | – | + | + | – | – | + | + | – | – | 49 | ||
CS4PV | Italy | M | 0.2 | 3 (6) | II | c.223_227del | r.223_227del | p.Asn75Glnfs*9 | + | + | + | S | + | C | + | + | ||||||
CS2NG | Japan | M | c.[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 | |||||||||||||||||
CS3NG | Japan | M | ||||||||||||||||||||
CS28NG | Japan | M | ||||||||||||||||||||
CS29NG | Japan | M | ||||||||||||||||||||
CS30NG | Japan | M | ||||||||||||||||||||
CS37NG | Japan | M | ||||||||||||||||||||
CS2OS | Japan | M | 40 | |||||||||||||||||||
CS2AW | Japan | M | 40 | |||||||||||||||||||
CS263ST | France (Turkey) | M | 0.6 | 6 | I | c.316C>T | r.(316c>u) | p.(Gln106*) | + | – | + | S | P | – | – | + | + | – | IV | + | – | |
CS261ST | Tunisia | M | 0 | 11 | I/II | c.400-2A>G | r.400_481del (exon 5) | p.Thr134Leufs*13 | + | + | + | S | C | C | – | + | + | – | IV | + | – | |
CS133NY | USA | M | 2 | (32*) | I/III | c.479C>T (third to last nt of exon 5) | r.400_481del (exon 5) | p.Thr134Leufs*13 | + | – | + | + | + | + | + | + | + |
50 51 | ||||
CS1BR | France | M | c.481G>A | r.[481g>a; 481_482ins481+1_481+4 (part of intron 5)] | p.Val161Serfs*5 | |||||||||||||||||
CS165ST | France (Turkey) | MM | 0 | 2 | II | c.481+1G>C | r.? | p.? | + | S | P | C | – | + | – | IV | – | |||||
CS24PV | M | 5 | c.598_600delinsAA | r.598_600delinsaa | p.Tyr200Lysfs*12 | |||||||||||||||||
CS1GLO (CS192ST) | UK (Libya) | M | 0 | 7 | I | c.598_600delinsAA | r.598_600delinsaa | p.Tyr200Lysfs*12 | + | + | + | + | ||||||||||
CS7PV | Italy | M | 0.1 | 4 (9*) | II | c.719–1G>A | r.719_843del (exon 9) | p.Ala240Glyfs*8 | + | + | + | S | + | C | + | |||||||
CS276ST | France | M | ? | 15 | III ? | c.730C>T | r.(730c>u) | p.(His244Tyr) | – | + | S | – | – | + | + | II | + | 52 | ||||
CS172ST | France | M | 0 | 14* | II | c.752delT | r.752delu | p.Leu251Tyrfs*18 | + | – | + | S | P | C | + | + | + | III | + | – | ||
CS260ST | France | M | 0 | 28 | III ? | c.793A>C | r.793a>c | p.Thr265Pro | + | + | M | + | + | + | II | 52 | ||||||
CS240ST | India | M | 0 | 6 | I/II | c.802C>T | r.(802c>u) | p.(Arg268*) | + | + | + | S | C | – | – | + | + | – | V | + | – | |
CS3BR | UK | M | 0.5 | 2 (6*) | II | r.812u>c | p.Leu271Pro | + | – | + | S | + | + | – | – | – | + | + | ||||
CS9IAF | Israel (Arab) | M | 3 | I | c.966C>A | r.[966c>a, 844_1041del (exon10),844_1122del (exons 10–11)] | p.[Tyr322*, Val282_Gln347del, Val282_Glu374del] | + | – | + | + | |||||||||||
CS5IAF | Israel (Arab) | M | 0.5 | 6 | I | c.966C>A | r.[966c>a,844_1041del (exon10)] | p.[Tyr322*, Val282_Gln347del] | + | – | + | + | + | – | + | + | ||||||
GM02965 | USA | M | 13 | 25 | III | r.1049a>g | p.Tyr350Cys | + | – | + | mild | – | + | 53 | ||||||||
Compound heterozygotes | ||||||||||||||||||||||
CCS4 | Japan | F | F | c.[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 | + | – | – | – | Mild | Mild | 54 | |||||
CS9LO | UK | F | F | 1 | I/II | c.[282delT];[c.481G>A] | r.[282delu];[481g>a;481_482 ins481+1_481+4 (part of intron 5)] | p.[Pro95Leufs*30];[Val161Serfs*5] | + | – | + | S | + | – | – | – | + | + | – | |||
CS11PV | Italy | M | M | 2.5 | I | c.[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 | |||||
CS040ST | France | F | F | 2 | I | c.[356C>T(;)618–1G>A] | r.[(356c>u)(;) (618_626del)] |
p.[(Ser119Leu)(;) (Ala207_Ser209del] | + | + | M | P | – | – | + | + | + | II | + | – | 52 | |
CS6PV | Italy | F | F | 0.8 | I | r.[400_481del (exon 5]; [400_550del (exons 5–6)] | p.[Thr134Leufs*13]; [Thr134Valfs*7] | + | + | + | + | – | + | + | ||||||||
CS16PV | Italy | F | F | 0.2 | I | c.[594_595insAT];[659C>G] | r.[594_595insau]; [659c>g] | p.[Asp199Metfs*14]; [Ser220*] | + | + | + | + | + | – | – | + | + | + | + | |||
CS309ST | France | M | M | 0.25 | I | c.[611C>A];[1122+1delG] | r.[(611c>a)];[?] | p.[(Thr204Lys)];[?] | + | – | + | M | + | – | – | – | – | + | III | – | – | 52 |
CS1JE | Israel (Tunisia/ Algeria) | F | F | I | c.(618–1G>A];[?] | r.[618_626del (first 9 nt of exon 8)];[0] | p.[Ala207_Ser209del];[0] | + | – | + | + | + | + | + | ||||||||
CS291ST | France | F | F | 0.3 | I | c.[927delT];[1041+1G>T] | r.[(927delu)];[?] | p.[Phe309Leufs*19];[?] | + | – | + | S | P | C | – | – | – | + | 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.