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. 2021 Oct 14;30(1):95–100. doi: 10.1038/s41431-021-00961-3

Table 1.

Clinical and molecular features in 12 new individuals with WHSUS.

Individual 1 2 3 4 5 6 7 8 9 10 11 12
Age 9 y 10 y 10 y 4 y 3 y 34 y 11 y 2 y 2 y 11 m 7 y 4 y
Sex Male Female Male Male Male Female Female Female Female Male Male Female
Mutation (NM_015100.3) c.1005delG p.(Pro336Glnfs*23) c.1640_1650 del p.(Cys547*) c.2020delC p.(Arg674Valfs*9) c.2080 C > T p.(Arg694*) c.2080 C > T p.(Arg694*) c.2080 C > T p.(Arg694*) c.2310 C > G p.(Tyr770*) c.2520_2521delCA p.(His 840Glnfs*23) c.2711 T > A p.(Leu904*) c.2933_2934dupTT, p.(Arg979Phefs*3) c.3001 C > T p.(Arg1001*) c.3354_3355delCTinsT p.(Leu 1119Cysfs*3)
ACMG/ACGS criteria PVS1, PS2_sup, PM2 PVS1, PS2_sup, PM2 PVS1, PS4_sup, PM2 PVS1, PM2 PVS1, PM2 PVS1, PM2 PVS1, PS2_sup, PM2 PVS1, PS2_sup, PM2 PVS1_strong, PS2_sup, PS4_ sup, PM2 PVS1_strong, PS2_sup, PM2 PVS1_strong, PS2_sup, PS4_mod, PM2 PVS1_strong, PS2_sup, PS4_sup, PM2
Inheritance De novo De novo Paternal Maternal Maternal Unknown De novo De novo De novo De novo De novo De novo
Novel Yes Yes No Yes Yes Yes No Yes Yes Yes No Yes
Microcephaly − + − + + + − + + + − +
DD or ID Mild Moderate Moderate Mild DD nr Moderate Mod-Severe Severe DD Severe Mild
Severe Speech delay − + + + + nr − + + n/a + −
Brain MRI Normal nr nd nd nd nd nd CC hypoplasia Prominent CSF spaces CC hypoplasia, prominent CSF spaces Normal nr
Hypotonia nr nr nr + nr nr nr + + + nr nr
Feeding Initial delay in solids Slow eater Normal Oesophageal dysmotility Slow eater Normal Normal Initial delay in solids Initial delay in solids Unsafe swallow Initial delay in solids Fussy eater
Obesity + − + − − + + − − − − −
Hearing Mixed loss Normal Normal Normal Glue ear Normal Glue ear/ Grommets Normal (ASSR) SNHL SNHL Glue ear/ Grommets Normal
Vision Ptosis Strabismus, ptosis Myopia HM HM HM, macular drusen and pigment displacement HM Bilateral retinal coloboma Cone-rod dystrophy, high HM Prominent right eye with strabismus Myopia Left iris coloboma, normal vision
Other features Talipes equinovarus, CALs, mild scoliosis/lordosis sandal gap, widely spaced upper incisors Sparse hair, brachydactyly Small genitalia, sandal gap, irregular teeth, cleft lip and palate. Intermittent unprovoked vomiting, hypermobile, Early teeth eruption, hypermobile, Asthma, hyperthyroidism, hypermobile CALs Diaphragmatic hernia, unilateral duplicated collecting system Initial raised nuchal translucency Cystic hygroma, atrial septal defect, pyloric stenosis, bilateral cryptorchidism Atopy. gum hypertrophy Atopy, asthma, splenic cyst

Individuals 9 and 12 were reported in previous DDD publications but with limited phenotype information.

Age d(ays), m(onths), y(ears), ASSR auditory steady-state response, CALs café au lait macules, CC corpus callosum, CSF cerebrospinal fluid, DD developmental delay, HM hypermetropia, ID intellectual disability, n/a not applicable, nd not done, nr not reported, OFC occipitofrontal circumference, SNHL sensorineural hearing loss, sz seizures.