Table 1 Molecular and clinical details for PRLTS patients with HSD17B4 mutations
Family [Reference] | 1 [5,15] | 2 [9] | 3 [14] | 4 [This case] | |||||
|---|---|---|---|---|---|---|---|---|---|
Affected member | P1–1 | P1–2 | P2 | P3 | P4–1 | P4–2 | |||
Variant | c.650A > G;p.Y217C | c.1704 T > A;p.Y568X | The same as P1–1 | c.46G > A;p.G16S | c.244G > T;p.V82F | c.317G > A;p.R106H | c.1675A > G;p.I559V | c.298G > T;p.A100S | The same as P4–1 |
Ref Seq transcript | NM_000414 | NM_000414 | NM_000414 | NM_000414 | |||||
HET/HOM | Compound HET | Compound HET | Compound HET | Compound HET | HOM | HOM | HOM | ||
Mutation type | Missense | Nonsense | Missense | Missense | Missense | Missense | Missense | ||
Affected domain | DD | HD | DD | DD | DD | HD | DD | ||
Ethnicity | American of mixed European ancestry | Brazilian | Korean | Chinese | |||||
Consanguinity | N | N | N | Y | |||||
Sex | F | F | F | F | F | F | |||
Age at last assessment, years | 27 | 16 | 43 | 15 | 37 | 40 | |||
Gonadal dysgenesis | |||||||||
Amenorrhea | Primary | NA | NR | Primary | Secondary | Primary | |||
Pelvic US/MRI | NR | NR | small uterus and ovaries | hypoplastic and vagina, and ovarian agenesis. | small uterus and ovaries | NR | |||
FSH(RI),IU/L | 111 | NR | 72 (0.9–15) | 108.76 (0.3–9.0) | 59.80 (3.50–12.50) | NR | |||
LH(RI),IU/L | 81.89 | NR | 59 (1.3–13) | 21.8 (0.1–10.6) | 30.08 (2.40–12.60) | NR | |||
Estradiol(RI),pg/mL | NR | Low | 12.6 | 12.01 (20–50) | 7.6 (12.5–16.3) | NR | |||
Testosterone(RI),ng/dL | NA | NA | NA | NA | NA | NA | |||
Azoospermia | NA | NA | NA | NA | NA | NA | |||
SNHL | ++/+++ | ++/+++ | +++ | +++left ear | ++ | + | |||
Neurological features | |||||||||
Motor | |||||||||
Weakness | +,LE | + | NR | NR | − | − | |||
LE spasticity | + | NR | NR | NR | + | − | |||
Deep tendon reflexes | NR | NR | NR | NR | ++ | − | |||
Pes cavus | Y | NR | NR | NR | − | − | |||
Sensory conduction | Impaired | NR | NR | NR | − | − | |||
Cerebellum | |||||||||
Ataxia | Y | − | Y | Y | Y | ||||
Mobility aids | Wheelchair | − | NR | − | − | − | |||
Intension tremor | Y | Y | NR | NR | − | − | |||
Nystagmus | Y(on lateral gaze) | − | NR | NR | Y(on lateral gaze) | NR | |||
Oculomotor apraxia | Y | − | NR | NR | Y | − | |||
Dysarthria | + | NR | NR | Y | Y | ||||
Cranial MRI | |||||||||
Cerebellar atrophy | ++/+++ | NR | Y | NR | ++ | NR | |||
Intellecture disability | NR | NR | + | NR | + | + | |||
Growth retardation | + | − | NR | + | − | − | |||