Genetic and phenotypical overview of affected individuals with changes in SHROOM4
| Family | Family A | Family B | Family C | Family D | |||
| Individual | III-1 | II-3 | II-1 | II-1 | II-2 | II-4 | |
| Sex | Female | Male | Male | Male | Male | Male | |
| Chr. position (hg19) | chrX:g.50378133 | chrX:g.50378133 | chrX:g.50345632 | Xp11.23p11.22 | Xp11.23p11.22 | Xp11.23p11.22 | |
| Inheritance | Maternally inherited (skewed X chr) | Maternally inherited | Maternally inherited | Parents not available for testing | Parents not available for testing | Maternally inherited | |
| Nucleotide change | NM_020717.4: c.940G>A | NM_020717.4: c.940G>A | NM_020717.4: c.3942+1G>A | Type | Deletion | Deletion | Deletion |
| Amino acid change | p.(Glu314Lys) | p.(Glu314Lys) | p.? | Minimal region affected | chrX:g.49,369,600–50,447,320 | chrX:g.49,369,600–50,447,320 | chrX:g.49,375,617–52,838,206 |
| CADD | 20.5 | 20.5 | NA | Size | 1.07 Mb | 1.07 Mb | 3.46 Mb |
| gnomAD allele frequencies (hom/hemi/het/wt) | 0/0/1/178,700 | 0/0/1/178,700 | Not reported | ||||
| Renal and GU | Unilateral renal agenesis | Unilateral renal agenesis | Renal dysplasia and micropenis | PUV, cryptorchidism, proteinuria, hypercalciuria and nephrocalcinosis (Dent’s disease) | PUV, proteinuria and nephrocalcinosis (Dent’s disease) | PUV, bilateral hydronephrosis, renal cortical microcyst, micropenis, cryptorchidism, proteinuria and hypercalciuria (Dent’s disease) | |
| Neurological development | Hypotonia | DD and intellectual disability | DD, delayed speech and intraventricular bleeding | DD, increased muscular tone of lower limbs and epilepsy | |||
| Gastrointestinal | EA with fistula (Vogt type 3b) | EA with fistula (Vogt type 3b) | Gastric reflux and failure to thrive | Failure to thrive | Failure to thrive | ||
| Anorectal | ARM with vestibular fistula | ARM | |||||
| Cardiac | Tetralogy of Fallot | ASD and persistent foramen ovale | |||||
| Skeletal | Aplasia of right radius bone and left preaxial polydactyly | Clinodactyly of the fifth finger and equinovarus | Short stature | Short stature and extremeties | |||
| Craniofacial features | Overfolded helix, depressed nasal bridge, highly arched eyebrow, hypertelorism, micrognathia and posteriorly rotated ears | Prominent frontal tumours, depressed nasal bridge, hypertelorism, high arched palate and retinal thinning | Protruding eyes | ||||
| Skin and hair | Mongolian blue spot and single transverse palmar creases | Atopic skin, oedema of the dorsal parts of the feet and lower legs, and periodic red colour of oedematous skin | Single transverse palmar crease | ||||
| Endocrine | Hypothyreosis | ||||||
| Immune | Low C3/C4 and low immunoglobulins | Low C3/C4 and low immunoglobulins | |||||
| Electrolytes | Hypomagnesaemia, hyponatraemia, hypophosphataemia, hypokalaemia, hypokalcaemia and hypochloremia | Hypophosphataemia | |||||
| Other | Single umbilical artery, nuchal cord and sacral dimple | Fanconi syndrome, suspected shaken baby syndrome with subdural hygroma and retinal bleeding | Retinitis pigmentosa, omphalocele and inguinal hernia | ||||
ARM, anorectal malformation; ASD, atrial septal defect; CADD, Combined Annotation Dependent Depletion; chr, chromosome; DD, developmental delay; EA, oesophageal atresia; GU, genitourinary; hemi, hemizygous; het, heterozygous; hom, homozygous; Mb, megabase; NA, not applicable; PUV, posterior urethral valve; wt, wild type.