Table 2 Mutational analysis, clinical data and prenatal diagnosis of combined MMA and HC families
From: Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC
No. | Proband | Mutation Maternal | Mutation Paternal | Onset age | Clinical data | Follow-up | Fetus Genotype | ||
|---|---|---|---|---|---|---|---|---|---|
HC (μM) | MMA (μM) | Ocular abnormalit-ies | |||||||
(age and clinical details) | |||||||||
1*# | / | 220delK | W203X | 1 months | 43 | 20.8 | NA. | Dead of severe malnutrition at 6 months old | W203X, 220delK |
2 | R132X | W203X | R132X | 6 months | 99 | 187.3 | Normal^ | 1.5y,developmental delay HC decreased to 60 μM | |
W203X | |||||||||
3 | G155R | G155R | c.567dupT | 1 month | NA | 75.1 | nystagmus | MMA decreased to 24.6 μM | |
c.567dupT | |||||||||
4# | / | W203X | 220delK | 3 weeks | NA. | Dead at 1 month old | |||
5# | / | R73X | 220delK | 2 months | NA. | Dead at 8 month old | |||
6* | R206W | R206W | W203X | 40 days | 158 | 45.1 | nystagmus | 3y,developmental delay, | R206W, |
W203X | HC, MMAare normal | —— | |||||||
7 | W203X | W203X | 220delK | 10 days | 131 | 958.9 | nystagmus | developmental delay, malnutrition | |
220delK | |||||||||
8* | W203X | W203X | W203X | 2 weeks | 174 | 215.2 | Normal^ | 15 months, taking medicine promptly and properly for a period of time, the patient has being in good recovery | ——, |
W203X | —— | ||||||||
9# | / | 220delK | W203X | NA. | NA. | Dead at 4 months old | |||
10 | W203X | W203X | W203X | 3 months | 108 | 29.4 | Visual inattention nystagmus | 6 months, Can’t raise his head, developmental delay | |
W203X | |||||||||