Table 1.
Phenotypes in Intragenic MBD5 Disruptions and 2q23.1 Microdeletions in the Combined Cohort1
| Features | MBD5 | 2q23.1 | ||||
|---|---|---|---|---|---|---|
|
| ||||||
| Number Reported2 | Total Cohort3 | Number Reported2 | Total Cohort3 | |||
| Behavioral | ||||||
| Aggression/Temper | 3/3 (100%) | 3/16 (19%) | 10/11 (90%) | 10/54 (19%) | ||
| Anxiety | 1/1 (100%) | 1/16 (6%) | 1/2 (50%) | 1/54 (2%) | ||
| Autistic-like behaviors | 9/9 (100%) | 9/16 (56%) | 43/44 (97%) | 43/54 (80%) | ||
| Bruxism (teeth grinding) | -- | 0/16 (0%) | 5/5 (100%) | 5/54 (9%) | ||
| Distractibility/Short attention span | 5/5 (100%) | 5/16 (31%) | 15/15 (100%) | 15/54 (29%) | ||
| Hand flapping | 2/2 (100%) | 2/16 (13%) | 2/3 (66%) | 2/54 (4%) | ||
| Hyperactivity | -- | 0/16 (0%) | 2/4 (50%) | 2/54 (4%) | ||
| Hyperphagia | 0/4 (0%) | 0/16 (0%) | 7/11 (64%) | 7/54 (13%) | ||
| Inappropriate happy demeanor | -- | 0/16 (0%) | 5/5 (100%) | 5/54 (9%) | ||
| Insertion of hand in mouth or hand biting | 1/1 (100%) | 1/16 (6%) | 6/6 (100%) | 6/54 (11%) | ||
| Obsessive-compulsive or routine-bound behaviors | -- | 0/16 (0%) | 4/5 (80%) | 4/54 (7%) | ||
| Self-injurious behaviors including skin and eye picking | 2/4 (50%) | 2/16 (13%) | 18/27 (66%) | 17/54 (31%) | ||
| Sleep disturbances | 5/8 (63%) | 5/16 (31%) | 17/22 (77%) | 17/54 (32%) | ||
| Social withdrawl | 1/1 (100%) | 1/16 (6%) | 1/2 (50%) | 1/54 (2%) | ||
| Sensory processing disorder | -- | 0/16 (0%) | 2/3 (66%) | 2/54 (4%) | ||
| Central Nervous System | ||||||
| Ataxia/Unusual gait | 0/4 (0%) | 0/16 (0%) | 18/26 (72%) | 18/54 (33%) | ||
| Developmental delay/Intellectual disability | 15/15 (100%) | 15/16 (94%) | 52/52 (100%) | 52/54 (96%) | ||
| Feeding difficulties | 2/3 (67%) | 2/16 (13%) | 15/16 (94%) | 15/54 (29%) | ||
| Hypotonia/Abnormal muscle tone | 3/4 (75%) | 3/16 (19%) | 22/23 (96%) | 22/54 (41%) | ||
| Motor delay | 6/6 (100%) | 6/16 (38%) | 32/32 (100%) | 32/54 (60%) | ||
| Seizures | 11/12 (92%) | 10/16 (63%) | 31/38 (82%) | 31/54 (57%) | ||
| Speech delay | 7/10 (70%) | 7/16 (44%) | 37/37 (100%) | 37/54 (69%) | ||
| Growth/Endocrine | ||||||
| Growth retardation | 2/5 (40%) | 2/16 (13%) | 23/40 (56%) | 23/54 (43%) | ||
| Hirsutism | 0/5 (0%) | 0/16 (0%) | 4/20 (20%) | 4/54 (7%) | ||
| Obesity | 0/1 (0%) | 0/16 (0%) | 5/9 (56%) | 5/54 (9%) | ||
| Short stature | 3/6 (50%) | 3/16 (19%) | 25/33 (70%) | 25/54 (41%) | ||
| Craniofacial | ||||||
| Cranium | ||||||
| Brachycephaly | 0/6 (0%) | 0/16 (0%) | 12/28 (43%) | 12/54 (22%) | ||
| Metopic ridging | -- | 0/16 (0%) | 2/4 (50%) | 2/54 4%) | ||
| Microcephaly | 1/8 (13%) | 1/16 (6%) | 26/32 (81%) | 26/54(48%) | ||
| Plagiocephaly | -- | 0/16 (0%) | 2/4 (50%) | 2/54 (4%) | ||
| Broad forehead | 2/2 (100%) | 2/16 (13%) | 3/5 (60%) | 3/54 (6%) | ||
| Ears/Nose | ||||||
| Nasal abnormalities | 6/6 (100%) | 6/16 (38%) | 34/35 (97%) | 34/54 (63%) | ||
| Outer ear abnormalities | 2/6 (33%) | 2/16 (13%) | 18/21 (86%) | 18/54 (33%) | ||
| Eyes | ||||||
| Almond shaped eyes | 1/1 (100%) | 1/16 (6%) | 2/2 (100%) | 2/54 (4%) | ||
| Astigmatism | 1/1 (100%) | 1/16 (6%) | 2/4 (50%) | 2/54 (4%) | ||
| Hypotelorism | 0/5 (0%) | 0/16 (0%) | 7/22 (36%) | 7/54 (13%) | ||
| Myopia/Hypermetropia/Corrective Lenses | 2/2 (100%) | 2/16 (13%) | 6/9 (67%) | 6/54 (11%) | ||
| Optic nerve hypoplasia | -- | 0/16 (0%) | 2/4(50%) | 2/54 (4%) | ||
| Palpebral fissures - downslanting | 1/1 (100%) | 1/16 (6%) | 2/4 (50%) | 2/54 (4%) | ||
| Palpebral fissures - long | -- | 0/16 (0%) | 3/4 (75%) | 3/54 (6%) | ||
| Palpebral fissures - upslanting | 1/1 (100%) | 1/16 (6%) | 1/3 (33%) | 1/54(2%) | ||
| Strabismus | -- | 0/16 (0%) | 2/5 (40%) | 2/54 (4%) | ||
| Synophrys | 2/6 (33%) | 2/16 (13%) | 10/20 (50%) | 10/54(19%) | ||
| Thick/Arched eyebrows | 1/1 (100%) | 1/16 (6%) | 17/22 (77%) | 17/54 (31%) | ||
| Face | ||||||
| Coarse facies | -- | 0/16 (0%) | 3/4 (75%) | 3/54 (6%) | ||
| Midfacial hypoplasia | 1/6 (17%) | 1/16 (6%) | 14/26 (54%) | 14/54 (27%) | ||
| Mouth/Chin | ||||||
| Dental abnormalities | 4/7 (57%) | 4/16 (25%) | 13/26 (50%) | 13/54 (25%) | ||
| Downturned mouth corners or everted lower lip | 2/4 (50%) | 2/16 (13%) | 16/22 (73%) | 16/54 (29%) | ||
| Macroglossia or protruding tongue | 2/7 (29%) | 2/16 (13%) | 6/24 (25%) | 6/54 (11%) | ||
| Micrognathia | 3/5 (60%) | 3/16 (19%) | 13/24 (54%) | 13/54 (25%) | ||
| Open mouth | 2/7 (29%) | 2/16 (13%) | 23/25 (92%) | 23/54 (43%) | ||
| Tented upper lip | 1/5 (20%) | 1/16 (6%) | 17/24 (71%) | 17/54 (31%) | ||
| Thin upper lip | 2/2 (100%) | 2/16 (13%) | 19/25 (76%) | 19/54(36%) | ||
| Wide mouth | 0/6 (0%) | 1/16 (6%) | 14/18 (77%) | 14/54 (27%) | ||
| Skeletal | ||||||
| Extremities | Brachydactyly | 0/4 (0%) | 0/16 (0%) | 12/27 (47%) | 12/54(23%) | |
| Fifth finger clinodactyly | 1/5 (20%) | 1/16 (6%) | 22/31 (72%) | 22/54 (41%) | ||
| Flat feet | 3/3 (100%) | 3/16 (19%) | 3/4 (75%) | 3/54 (6%) | ||
| Sandal gap | 3/6 (50%) | 3/16 (19%) | 8/24 (33%) | 8/54 (16%) | ||
| Short fifth digit | 1/5 (20%) | 1/16 (6%) | 13/25 (52%) | 13/54 (25%) | ||
| Small hands or feet | 1/5 (20%) | 1/16 (6%) | 22/30 (73%) | 22/54 (41%) | ||
| Other | Hip dysplasia | -- | 0/16 (0%) | 2/3 (67%) | 2/54 (4%) | |
| Joint laxity | 2/3 (67%) | 2/16 (13%) | 2/5 (40%) | 2/54 (4%) | ||
| Scoliosis | 2/2 (100%) | 2/16 (13%) | 2/6 (33%) | 2/54 (4%) | ||
| Gastrointestinal | ||||||
| Constipation | 6/7 (86%) | 6/16 (38%) | 13/15 (87%) | 13/54(25%) | ||
| Gastroesophageal reflux | -- | 0/16 (0%) | 3/3 (100%) | 3/54 (6%) | ||
| Heart | ||||||
| Atrial septal defect | 0/7 (0%) | 0/16 (0%) | 1/24 (4%) | 1/54(2%) | ||
| Ventricular septal defect | 1/7 (14%) | 1/16 (6%) | 1/24 (4%) | 1/54(2%) | ||
| Pulmonary stenosis | 0/7 (0%) | 0/16 (0%) | 1/24 (4%) | 1/54(2%) | ||
| Unspecified heart defect | 0/7 (0%) | 0/16 (0%) | 1/24 (4%) | 1/54(2%) | ||
| Urogenital | ||||||
| Hypoplastic genitalia | 0/1 (0%) | 0/16 (0%) | 5/8 (63%) | 5/54 (9%) | ||
1
The combined cohort is the new cases plus those cases from Talkowski et al with phenotype data (n = 70).
2
Each denominator reflects the total number of cases with this feature specifically noted to be present or absent.
3
Each denominator reflects the total number of cases in the cohort which may or may not represent assessment for the specific feature.