Table 4.
Phenotype comparison between severe and missense variants of MKRN3
| Severe pathogenica | Missense pathogenicb | P | |
|---|---|---|---|
| Number of patients (%) number of families | 53 (75%) 26 | 18 (25%) 10 | NA |
| Male/Female | 18/35 | 8/10 | NA |
| First pubertal signs (years) | 6.2 ± 1.3 | 6.8 ± 1.2 | .23 |
| Pubarche (years) | 6.8 ± 1.1 | 7.6 ± 1.3 | .19 |
| First evaluation | |||
| CA (years) | 7.3 ± 1.1 | 7.5 ± 1.5 | .62 |
| BAA (years) | 2.3 ± 1.6 | 1.6 ± 1.4 | .047 |
| Height SDS | 1.2 ± 1.1 | 0.9 ± 1.2 | .35 |
| BMI SDS | 1.1 ± 0.9 | 0.8 ± 1.2 | .34 |
| Basal LH (IU/L) | 2.2 ± 1.8 | 1.1 ± 1.1 | .018 |
| GnRH stimulated LH (IU/L) | 20.4 ± 15.8 | 14.7 ± 10.1 | .26 |
| Basal FSH (IU/L) | 4.9 ± 2.7 | 3.7 ± 1.7 | .08 |
| Menarche (years) | 10.6 ± 1.7 | 11.4 ± 1.1 | .22 |
| Final height SDS in treated patients | –0.8 ± 1.1 | –1.3 ± 0.9 | .60 |
| Target height SDS | –0.7 ± 1.0 | –0.1 ± 0.9 | NA |
Data are shown as mean ± standard deviation. The clinical data in this comparison are of the female patients only because male subjects had fewer data available to perform this comparison.
Abbreviations: CA, chronological age; SDS, standard deviation score; FSH, follicle-stimulating hormone; LH, luteinizing hormone; GnRH, gonadotropin-releasing hormone; BMI, body mass index; BAA, bone age advancement; NA, not applicable.
a Severe MKRN3 mutations: p.Pro161Argfs*10; p.Tyr391*; p.Arg213Glyfs*73; p.Asn409Profs*11; p.Gln226Thr fs*6; p.Glu256Gly fs*36; p.Arg189Leufs*17; c.-150_-147delTCAG.
b Missense MKRN3 mutations: p.Arg365Ser; p.Arg328Cys; p.Arg328His; p.Phe417Ile; p.Ala302Val; p.Tyr418His; p.Arg242Trp; p.Phe417Leu; p.Met297Arg; p.Arg68His.