Table 1 Clinical phenotypes and mutation analysis in seven patients with syndromic short stature
From: Molecular genetic analysis and growth hormone response in patients with syndromic short stature
Patient | Year | Sex | Technique | Short stature | Intellectual disability | Facial dysmorphism | Other features | Result | Diagnosis | GH therapy |
|---|---|---|---|---|---|---|---|---|---|---|
1. | 4–3/12 | Female | Trio-WES, CNVs | + | + | Strabism | Macrocephaly, short limbs, depigmentation, PHPV of right eye | FGFR3, NM_000142.4, c.1620C>A (p.N540K) ZNF687, NM_020832.2, c.2810C>G (p.P937R) | Hypochondroplasia | Yes |
2. | 6 | Female | Trio-WES, CNVs | + | + | − | Bilateral asymmetry, café au lait macule, congenital heart disease | COL1A2, NM_000089, c.2943+21C>T | VUS | No |
3. | 5 | Male | Trio-WES | + | − | Triangle face, facial asymmetry | Bilateral asymmetry, hypertonia of left limbs, muscle weakness and atrophy of left limbs, inguinal hernia, obstructive sleep apnoea | TRPV4, NM_021625, c.2572C>T (p.Q858X) | VUS | No |
4. | 12–9/12 | Female | Trio-WES, CNVs | + | + | Triangle face | Brachydactyly, brachymetacarpia | GNAS, NM_080425, c.2288C>T (p.A763V) | PHP-Ia | Yes |
5. | 10–7/12 | Male | Trio-WES | + | − | Macrocephaly, hypertelorism, epicanthal folds, anteverted nares, mid-face hypoplasia, thick lips, supernumerary teeth | Open fontanelles, drooping shoulders, hypoplastic clavicles, narrow thorax | COL11A1, NM_001854.3, c.C5095G (p.L1699V); GLI3, NM_000168.5, c.A4721G (p.K1574R) | VUS | No |
6. | 1–3/12 | Female | Trio-WES | + | − | Sparse hair, bulbous tip of the nose | Cone-shaped epiphyses, severe eczema | TRPS1, NM_014112, c.2527_c.2528dupTA (p.S843fsX72) | TRPS I | No |
7. | 2–11/12 | Male | Trio-WES | + | − | − | 3–5th Distal phalanges hypoplasia of left hand, simian crease, multiple dental caries, depigmentation, eczema | − | Unknown | No |