Table 1.
Summary of phenotypes previously reported in the literature with previously unreported BGR cases. The denominator for total frequency is determined by the number of previously published probands and BGR cases that commented on the specific phenotypic feature. If a paper did not comment on a phenotype, it is not included in the denominator. (*) indicates that the presence or lack of the given phenotypic feature was reported by the proband’s family via GenomeConnect health surveys. Cases in the literature were included in this table only if they reported detailed phenotypic data [6,8,11,13,14,15,16].
| Total Frequency | BGR 1 (14y M) | BGR 2 (8y M) | BGR 3 (15y M) | |
|---|---|---|---|---|
| ASH1L Variant (NM_018489.3) | c.1603G>T p.Gly535* | c.4902_4903del, p.Ser1635Cysfs*18 | c.4909C>T, p.Gln1637* | |
| Inheritance | De novo | De novo | Unknown | |
| Sex | 12 Male/3 Female | Male | Male | Male |
| Type of variant | Nonsense | Frameshift | Nonsense | |
| ID/DD | 15/16 | + | − | + |
| ASD | 6/10 | + | + | + |
| Motor delay | 6/12 | − | + | NR |
| Speech delay | 6/10 | + | + | NR |
| Feeding difficulties | 4/8 | − | + | NR |
| Seizures | 6/11 | + | − | + |
| Obsessive behaviors | 4/5 | + | + | NR |
| ADHD or hyperactivity | 6/7 | + | + | + |
| Hypotonia | 4/8 | − | − | + |
| Genital malformations | 5/9 | − * | − * | NR |
| Sleep disorders | 6/9 | + | − | − |
| Pectus carinatum/excavatum | 2/7 | − | − * | NR |
| Scoliosis | 2/7 | − | − * | NR |
| Dysmetria/ataxic gait | 2/4 | − | + | + |
| Hyperopia/Astigmatism/Strabismus/Nystagmus | 6/10 | + | − | − |
| Hearing impairment | 3/8 | − | − | + |
| Gastrointestinal disturbances | 6/8 | + | + | NR |
| Anxiety/Depression | 2/4 | + | − | + |
| Facial dysmorphisms | 8/10 | − | − | thin lips |
| Additional variants found in TSHZ3 and TNR. | Additional variants found in MED12, POU4F3, and ATP2B2. |