Table 1 Patient demographics, family and individual history
From: Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
Patient | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | |
Age (years) | 1.5 | 2.5 | 3 | 9 | 9 | 10 | 13.5 | 13.5 | 19 | 21 | 21 | 22 | 23 |
Gender (F/M) | F | M | M | F | M | F | F | F | M | M | M | F | F |
Parental consanguinity | Y | N | N | Y | Y | Y | Y | Y | Y | N | Y | N | Y |
MPS VII positive family history | Y | N | N | N | Y | Y | N | N | Y | N | N | N | Y |
NIHF | Y | Y | N | N | Y | Y | Y | N/A | N | Y | N | Y | N |
Snoring | N | N/A | N | Y | N | N | Y | N/A | Y | ? | Y | Y | N |
Sleep apnea | N | N/A | N | N/A | Y | N | N | N/A | Y | ? | Y | N | N |
Recurrent respiratory infect | Y | N/A | N/A | Y | Y | Y | N | N/A | Y | Y | Y | Y | N |
Hearing loss | N | N/A | N/A | N/A | Y | Y | N | NA | Y | Y | Y | N/A | N |
GAGs excretion (mg/mMol Cr) | N/A | 404 | 608,05 | 179 | N/A | N/A | 334 | N/A | 237 | 155 | 25 | N/A | 357 |
b-glucuronidase activity in leucocytes or plasma* | 1.4 | 0.15 | 0.7# | 1.7 | 0.11 | 0.37 | 0.8 | 0.2 | N/D | N/D# | 0.34 | 0.7 | 2.9# |
Molecular results | HOM | HOM | C.HET | HOM | HOM | HOM | HOM | HOM | HOM | HOM | HOM | HOM | HOM |
c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe)/c.875T>C (p.Leu292Pro) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | c.526C>T (p.Leu176Phe) | |