Table 1 Clinical phenotypes of the four patients carrying the c.599G>A substitution in GNA13
Patient | Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|---|
GNA13 Variant | Nomenclature | chr17:g.63010910C>T NM_006572.4:c.599G>A p.(Arg200Lys) | chr17:g.63010910C>T NM_006572.4:c.599G>A p.(Arg200Lys) | chr17:g.63010910C>T NM_006572.4:c.599G>A p.(Arg200Lys) | chr17:g.63010910C>T NM_006572.4:c.599G>A p.(Arg200Lys) |
Tissue VAFa | Affected skin | 29.0% | 30.0% | 25.0% | 36% |
Blood | 0.3% (NS) | 0.00% (NS) | – | 0.0% (NS) | |
Buccal swab | 0.1% (NS) | 10.6% | 3.9% | 0.5% (NS) | |
Urine | 0.0% (NS) | – | 0.1% (NS) | 0.0% (NS) | |
Sex | Male | Male | Female | Female | |
Age at last visit | 14 y. 7 mo. | 24 y. | 22 mo. | 9 y. 7 mo. | |
Growth | OFC (cm) | 50.5 (−1 SD) | – | – | – |
Height (cm) | 108.5 (−0.5 SD) | – | – | 123 (+0.5 SD) | |
Weight (kg) | 19.0 (M) | – | – | 22 (M) | |
Asymmetry Craniofacial anomalies | Right-sided hemihypotrophy (lower limb) | Right-sided hemifacial hypoplasia Lower limb asymmetry Plagiocephaly Scoliosis | No | Right-sided hemifacial hypoplasia | |
Pregnancy and birth | Fetal ultrasonography | – | Intrauterine growth retardation | – | Normal |
Term | 41 wk | – | – | 39 wk | |
OFC at birth (cm) | NR | – | – | 33.5 | |
Length at birth (cm) | 44.0 | – | – | 49.5 | |
Weight at birth (g) | 2500 | – | – | 3560 | |
Skin and hair | Hypopigmentation pattern | Linear, spindle-shaped, flag-like, splash-like, phylloid | Linear, spindle-shaped | Linear, splash-like | Linear, spindle-shaped |
Location of hypopigmentation | right upper and lower limbs, trunk | Lower limbs bilaterally, face (chin) | Left lower limb | Right upper limb | |
Hair anomalies | Absence of hair on hypopigmented skin | Patchy alopecia of scalp hair and right eyelashes | NR | Patchy alopecia on parietal scalp and right eyelashes | |
Wound healing | Delayed wound closure (9 months) after skin biopsy (right upper limb) | Delayed wound closure after skin biopsy (1 month) and after excision of supernumerary digit of the right hand (2–3 months) | NR | NR | |
Neurology | Peripheral nerves | Right foot dysaesthesia and weakness | NR | NR | NR |
Brain MRI | White matter hyperintensities (centrum semiovale, right parietal lobe and temporoparietal junction, left frontal lobe) | Hydrocephalus | Normal (at age 6 mo.) | Not performed | |
Acral anomalies | Camptodactyly | Right hand polysyndactyly Left hand brachymetacarpy Bilateral pes planus (partial talocalcaneal fusion) Toe syndactyly (right foot) | Left foot polysyndactyly | No | |
Ocular anomalies | No | Coloboma of upper eyelid, bilateral abnormal fundus | Mild iris coloboma | Amblyopia with mild microphalmia of right eye Narrow palpebral fissure of right eye Normal eye fundus | |
Dental anomalies | No | Odontogenic cysts, dental anomalies | NR | Conical teeth | |
Hearing loss | No | Mixed hypoacusis of right ear (hearing aid) Otosclerosis Abnormal inner auditory and cochlear nerve canals Cochlear nerve agenesis or hypoplasia | Left ear hypoacusis Chronic otitis media | No | |
Gastrointestinal tract anomalies | No | Jejunal atresia | Colonic atresia (ascending colon) | Colonic atresia | |
Urinary tract anomalies | No | Bilateral hydronephrosis, right megaureter | No | No | |
