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Table 1 Data for the patients reported in the present manuscript: gender, coefficient of inbreeding (F), family recurrence, genotype and localization in exons

From: Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

Case number Gender F Rec. Index case genotype  
Maternal allele Exon Paternal allele Exon
Ceará State
 1 M 0 N c.83dupT 2 c.83dupT 2
 2 F 0 N c.83dupT 2 c.721C>T 6
 3 M 0 N c.721C>T 6 c.721C>T 6
 4 F 1/32 N c.953G>A 8 c.953G>A 8
 5 F 0 N c.83dupT 2 c.83dupT 2
 6 M 0 N c.721C>T 6 c.721C>T 6
 7 F ? Sistera c.721C>T 6 c.721C>T 6
 8 M 0 Sister c.436G>C 5 c.436G>C 5
 9 M 0 N c.83dupT 2 c.83dupT 2
 10 M 1/256 N c.83dupT 2 c.83dupT 2
 11 M 1/16 N c.721C>T 6 c.721C>T 6
 12 F 0 Brotherb c.721C>T 6 c.721C>T 6
 13 M 1/16 N c.436G>C 5 c.436G>C 5
 14 M 0 Brother c.436G>C 5 c.580G>A 5
 15 M 1/16 N c.436G>C 5 c.436G>C 5
 16 M 0 N c.83dupT 2 c.83dupT 2
 17 F 0 N c.83dupT 2 c.721C>T 6
 18 M 0 N c.436G>C 5 c.436G>C 5
Other states
 19 M ? Sistera c.436G>C 5 c.436G>C 5
 20 M 0 Sister c.721C>T 6 c.436G>C 5
 21 F 0 Brothera c.953G>A 8 c.953G>A 8
 22 F 0 N c.953G>A 8 c.721C>T 6
 23 M ? N c.721C>T 6 c.721C>T 6
 24 M 1/16 N c.721C>T 6 c.721C>T 6
 26 F 0 Sister c.83dupT 2 c.721C>T 6
 27 F 1/64 N c.436G>C 5 c.436G>C 5
 28 M 1/256 N c.953G>A 8 c.953G>A 8
 29 M 0 Sister c.721C>T 6 c.436G>C 5
 30 F 0 N c.953G>A 8 c.83dupT 2
 32 M 1/16 N c.721C>T 6 c.721C>T 6
 33 F 1/256 N c.830C>T 7 c.830C>T 7
     Allele 1   Allele 2  
 25c M 0 N c.436G>C 5 c.721C>T 6
 31c M 0 N c.436G>C 5 c.721C>T 6
  1. Patients 1–18 are from Ceará State (Brazilian Northeast), Patients 19 to 21 are from Paraíba State (Brazilian Northeast), Patients 22–25 are from Maranhão State (Brazilian Northeast), Patient 26 is from Goiás State (Brazilian Central-west), Patients 27–32 are from São Paulo State (Brazilian Southeast) and Patient 33 is from Rio Grande do Sul State (Brazilian South)
  2. M, male; F, female; Y, yes; N, no; ?, parents are consanguineous but unaware of the family relationship; F, coefficient of inbreeding; Rec., recurrence
  3. aDNA not available for analysis
  4. bNo mutations were found
  5. cThe origin of each allele could not be proven