Table 1. .
Overview of the Phenotype of Patients Investigated for CRLF1 Mutations[Note]
| Abnormal |
|||||||||||
| Family (Consanguinity), Geographic Origin, and Patient |
Born | Sex | Age at Death | Scoliosis | Seizures | Age at Onset of Paradoxical Sweating (years) |
EEGa | Karyotype | Clinical Course | DNA Sequence Variant | Amino Acid Change |
| 1 (−): | |||||||||||
| Sardinia: | |||||||||||
| Brother | 1971 | M | 5 wk | − | + | − | NE | NE | NE | NE | |
| Brother | 1973 | M | 12 wk | − | + | − | NE | − | NE | NE | |
| Sister | 1975 | F | 8 wk | − | − | − | NE | − | NE | NE | |
| CS03 | 1979 | F | Alive | + | − | Puberty | − | − | High-arched palate, developmental delay, and nasogastric tube feeding for 3 years | c.226T→G c.676-677insA | p.Trp76Gly p.Thr226AsnfsX104 |
| 2 (−): | |||||||||||
| Sardinia: | |||||||||||
| CS07 | 1998 | M | Alive | + | − | 6 | − | NE | Heat intolerance | c.676-677insA | p.Thr226AsnfsX104 |
| 3 (−): | |||||||||||
| Sardinia: | |||||||||||
| Brother | 1993 | M | 12 wk | − | + | − | + | − | NE | NE | |
| CS10 | 1995 | F | Alive | + | − | 9 | − | − | Heat intolerance and erosive keratitis | c.676-677insA | p.Thr226AsnfsX104 |
| 4 (−): | |||||||||||
| Sardinia: | |||||||||||
| CS14 | 1993 | F | Alive | + | + | 9 | + | NE | Suspected anhydrotic ectodermal dysplasia and erosive keratitis | c.226T→G c.676-677insA | p.Trp76Gly p.Thr226AsnfsX104 |
| 5 (−): | |||||||||||
| Sardinia: | |||||||||||
| CS17 | 2004 | F | Alive | + | − | − | − | − | Heat intolerance; camptodactyly resolved at age 2 years | c.226T→G | p.Trp76Gly |
| 6 (−): | |||||||||||
| Turkey: | |||||||||||
| CS21 | 2002 | F | Alive | − | − | − | − | − | Speech delay, erosive keratitis, and gastrostomy tube feeding for 18 mo | c.1102A→T | p.Lys368X |
| 7 (+): | |||||||||||
| Turkey: | |||||||||||
| CS37 | 2003 | M | 30 mo | − | − | − | − | − | High-arched palate, gastroesophageal reflux, low CSF GABA levels,b and gastrostomy tube feeding for 2 years | c.708-709delCCinsT | p.Pro238ArgfsX6 |
| 8 (+): | |||||||||||
| Turkey: | |||||||||||
| CS41 | 1990 | M | Alive | + | − | 10 | − | − | Nasogastric tube feeding for 10 mo and speech delay | c.708-709delCCinsT | p.Pro238ArgfsX6 |
| CS42 | 1991 | F | Alive | + | − | 7 | − | − | Nasogastric tube feeding for 12 mo and speech delay | c.708-709delCCinsT | p.Pro238ArgfsX6 |
Note.— All subjects had perioral contractions, camptodactyly, hyperthermia, and feeding difficulties. NE=not examined; a minus sign (−)=unaffected or normal result.
a
Electroencephalogram.
b
Levels of GABA in cerebrospinal fluid (CSF) at age 17 mo: total GABA 3.1 μmol/liter (normal range 4.2–13.4 μmol/liter), free GABA 0.011 μmol/liter (normal range .017–.067 μmol/liter).