Table 1.
Clinical findings of individuals with homozygous splice variant in LSM1 (NM_014462.3)
| Patient ID | II.1 | II.6 |
|---|---|---|
| Gender | Female | Male |
| Age | 13 yr old | 6 yr old |
| Genotype | c.231 + 4A > C/c.231 + 4A > C | c.231 + 4A > C/c.231 + 4A > C |
| Prenatal | Bilateral hydronephrosis | Oligohydramnios Urinary tract obstruction |
| Intellectual disability | Yes | Yes |
| Developmental delay | Yes | Yes |
| Anthropometric measurements |
Birth Wt: 2665 g (86%) Len: 49 cm (96%) OFC: 31.5 cm (66%) Last visit (9 yr old) Wt: 25.3 kg (18%) Ht: 124 cm (7%) OFC: 51 cm (25%) |
Birth Wt: 2550 g (77%) Len: 43.5 cm (31%) OFC: 31 cm (47%) Last visit (6.5 yr old) Wt: 22.3 kg (25%) Ht: 115 cm (53%) OFC: n/a |
| Age at sitting | Delayed | 27 mo |
| Age at walking | 2.5 yr | 4.5 yr |
| Age at talking and current speech | Delayed and 90–100-word vocabulary at age 13 yr | Delayed |
| Dysmorphic features | Body and facial asymmetry (left side is smaller) Brachycephaly Cupped ears Frontal bossing Hypertelorism Rounded nasal tip Micrognathia Small teeth |
Flat nasal bridge Cupped right ear Excess nuchal folds |
| Cardiac | VSD (perimembranous) ASD PDA |
Mild mitral stenosis Bicuspid (partially fused) aortic valve Mild aortic stenosis and regurgitation Dilated ascending aorta Tortuous aortic arch without obstruction Aberrant right subclavian artery |
| Skeletal | Vertebral anomalies Triphalangeal thumbs Fifth finger clinodactyly |
Hemivertebrae (lumbar) |
| Genitourinary | Bilateral hydronephrosis Ovarian cyst (resolved) |
Bilateral dysplastic kidneys (Transplanted) Left duplicating collecting system Hydroureter Neurogenic bladder Hypospadias VUR Bilateral inguinal hernia and cryptorchidism |
| Ophthalmologic | Strabismus | Mild dysfunctional saccadic pursuit |
| Gastrointestinal | Feeding difficulty (G-tube) | Feeding difficulty (G-tube) Constipation and diarrhea |
| Other | Myringotomy tubes | Sleep apnea Elevated AST and ALT (drug-induced) |
(Wt) Weight, (Len) length, (OFC) occipitofrontal circumference, (Ht) height, (VSD) ventricular septal defect, (PDA) patent ductus arteriosus, (VUR) vesicoureteral reflux.