Table 2.
Comparison of disease severity, progress and mutations of the cases
| Author | Origin | Age of first calcification | Age of cord compression | Operations, age | Age of death | Cause of death | Mutation | |
|---|---|---|---|---|---|---|---|---|
| 1 | Borochowitz et al., 1993 | Sephardic Jewish, Egypt | 3.5 yrs | − | − | − | − | IVS17+1G>A¥ |
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| 2 | Sephardic Jewish, Iraq | 4 yrs | − | Thoracic widening, 4 yrs | 9 yrs | Cardiorespiratory failure | IVS17+1G>A¥ | |
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| 3 | Langer et al., 1993 | Puerto Rico | Newborn | − | − | 27 mo | Cardiorespiratory failure | − |
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| 4 | Puerto Rico | 2 yrs | − | − | 6 yrs | Sudden death during sleep | − | |
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| 5 | Puerto Rico | 15 mo | 37 mo | − | 39 mo | Sudden death/cord compression | − | |
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| 6 | Puerto Rico | 3 mo | − | − | − | − | − | |
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| 7 | ¥¥ | Puerto Rico | 27 mo | 27 mo | − | 29 mo | Pneumonia and cord compression | − |
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| 8 | Puerto Rico | Between 4 and 5 yrs | − | − | − | − | − | |
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| 9 | Puerto Rico | − | − | − | − | − | − | |
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| 10 | Na | 10 mo | − | − | − | − | − | |
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| 11 | Al Gazali et al., 2010¥¥¥ | Egypt | 2 yrs | − | − | 13 yrs | Respiratory failure | p.R752C |
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| 12 | Egypt | 1 year | 4 yrs | − | 8 yrs | Cord compression | p.R752C | |
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| 13 | Fano et al., 2001 | Hispanic | 10 mo | 15 mo | − | 21 mo | Sudden death/cord compression | − |
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| 14 | Smithson et al., 2009 | Pakistan | 5 yrs | − | − | − | − | p.T713I¥ |
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| 15 | Dias et al., 2009 | Northwestern Europe | − | 14 mo | − | 16 mo | Pneumonia and cord compression | − |
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| 16 | Northwestern Europe | − | 8 mo | − | 8 mo | Sudden death/cord compression | − | |
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| 17 | Bargal et al., 2009 | Jerusalem | After 8 yrs | After 3 yrs | Decompression, 10 yrs | − | − | p.R752C |
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| 18 | Jerusalem | After 8 yrs | After 3 yrs | Decompression, 11 yrs | − | − | p.R752C | |
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| 19 | Jerusalem | After 8 yrs | After 3 yrs | Decompression, 16 yrs | − | − | p.R752C | |
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| 20 | Jerusalem | After 8 yrs | After 3 yrs | − | − | − | p.R752C | |
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| 21 | Jerusalem | After 8 yrs | − | − | − | − | p.R752C | |
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| 22 | Jerusalem | After 8 yrs | − | − | − | − | p.R752C | |
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| 23 | Ali et al., 2010¥¥¥ | Pakistan | 6 yrs | − | − | − | − | p.E113K |
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| 24 | Pakistan | 8 yrs | − | − | − | − | p.E113K | |
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| 25 | Rozovsky et al., 2011 | Jerusalem | 16 yrs | 17 yrs | Decompression, 17 yrs | − | − | − |
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| 26 | Jerusalem | 1.5 yrs | 10 yrs | Decompression, 10 yrs | − | − | − | |
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| 27 | Jerusalem | − | − | − | − | − | − | |
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| 28 | Jerusalem | 6 yrs | 16 yrs | Decompression, 16 yrs | − | − | − | |
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| 29 | Jerusalem | − | 3.5 yrs | Decompression, 3.5 yrs | − | − | − | |
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| 30 | Jerusalem | − | − | − | − | − | − | |
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| 31 | Jerusalem | 6 yrs | 10 yrs | Decompression, 10 yrs | − | − | − | |
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| 32 | Algeria | 3 yrs | − | − | − | − | p.I726R¥ | |
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| 33 Al Kindi et al., 2014 | Oman | 10 yrs | − | − | − | − | p.S823Cfs*2 | |
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| 34 | Oman | 7 yrs | − | − | − | − | p.S823Cfs*2 | |
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| 35 Mansouri et al., 2016 | Morocco | − | − | − | − | − | p.R124W | |
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| 36 Ürel-Demir et al., 2018 | Turkey | 4 mo | 4 yrs | − | 5 yrs | Cardiorespiratory failure | p.R489* | |
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| 37 Tüysüz et al., 2009 (case 3) | Turkey | 1 y | 2 yrs | − | 2.5 yrs | Spinal cord injury | p.R489* | |
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| 38 Case 1 | Turkey | 1 y | 1 yr and 18 mo | Decompression, 18 mo | 3.5 yrs | Intracranial hemorrhage | IVS17+1G>A | |
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| 39 Case 2 | Turkey | Newborn | 1 yr and 18 mo | Decompression, 18 mo and 5 yrs | 5 yrs and 10 mo | Cardiorespiratory failure, pneumonia | p.S311G | |
yrs, years; mo, months.
¥
Bargal et al. [2009] defined the mutations in one Algerian, one Pakistani and parents of reported Jewish patients. Probably these are the mentioned cases.
¥¥
Third case of Borochowitz et al. [1993] and fifth case of Langer et al. [1993] are the same patient.
¥¥¥
Ali et al. [2010] studied and reported the variants of the Al Gazali et al. [1996] cases and gave information about the disease prognosis of these siblings in their article.