Table 1 Overview of the reported phenotypic features of individuals #1–#8 in childhood, as well as the respective phenotypes in adulthood including food intake, behavior, autonomy, and medical conditions
Individual # | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
|---|---|---|---|---|---|---|---|---|
Age (years) | 25 | 30 | 26 | 20 | 18 | 18 | 36 | 55 |
Gender | F | M | F | M | M | F | F | M |
MAGEL2 variant (NM_019066.4) | c.2874G > A p.Trp958* | c.1800delT p.Pro601Glnfs*101 | c.1819C > T p.Gln607* | c.2958delG p.Ser987Alafs*5 | c.1996dupC p.Gln666Profs*47 | c.1790delC p.Pro597Hisfs*105 | c.2821dupC p.Arg941Profs*10 | c.2170_2232dup p.Ser724_Ala744dup |
Inheritance | De novo | De novo | Paternal | De novo | Paternal | Unknown | Unknown | Unknown |
Height (cm) | 144.8 | 170 | n.s | 175.9 | 148 | 174 | 147 | 160 |
BMI (kg/m2) | 31.4 | 41.2 | n.s | 30.6 | 22 | 31.7 | 32 | 51.6 |
Head circumference (cm) | n.s | 56 | n.s | n.s | n.s | 54 | 55 | 57 |
IQ | Mild intellectual disability | Mild intellectual disability | n.s./n.a | Learning disability (WAIS-IV full scale: 84) | n.s | Learning disability (74–85) | n.s | Mild intellectual disability (WAIS-IV: 67) |
Phenotype in childhood | ||||||||
Birth weight (kg) | 2.35 | 3.33 | 2.61 | n.s | 2.89 | 3.42 | 3.28 | n.s |
Birth length (cm) | n.s | 50 | n.s | n.s | 48.3 | 54 | 46 | n.s |
Head circumference (cm) | n.s | 36.5 | 32.7 | n.s | n.s | 36 | n.s | n.s |
Gestational week | 35 | 40 | 35 | n.s | n.s | 40 | 38 | n.s |
Decreased fetal movement | n.s | Yes | n.s | n.s | n.s | Yes | n.s | n.s |
Congenital contractures of interphalangeal joints | Yes | Yes | Yes | Yes | Yes | No | Yes | n.s |
Neonatal hypotonia, poor suck | Yes | Yes | Yes | Yes | Yes | Yes | No | n.s |
Feeding problems in infancy | Yes | Yes | Yes | Yes | Yes | Yes | No | Yes |
Nasogastric tube feeding | n.s | Yes | Yes | n.s | Yes | Yes, for 1 mo | No | n.s |
Motor development | Delayed | Delayed | Severely delayed, never walked | Delayed | Delayed | Delayed | Delayed | Delayed |
Language development | Delayed | Delayed | None | Delayed | Delayed | Normal | n.s | n.s |
Speech, articulation defects | n.s | Fluent, mild (sometimes slurred speech) | n.a | n.s | First words at 11 years of age | Fluent | Strong verbal qualities | Fluent, mild |
Excessive weight gain before the age of 6 years | n.s | Yes | No | No | No | Yes | n.s | Possibly Yes |
Phenotype in adulthood | ||||||||
Food intake, metabolism and sleep (− = never; + = 1–3 times/month; ++ = 1–3 times/week; +++ = 4–7 times/week) | ||||||||
Overeating | +++ | +++ | n.a. (PEG tube) | +++ | − | + | + | +++ |
Food-seeking behavior | ++ | +++ | n.a | +++ | − | + | + | ++ |
Sleep apnea | + | +++ | − | +++ | +++ | − | n.s | +++ |
Need for assisted ventilation (CPAP, BIPAP) | − | +++ | − | +++ | +++ | − | − | +++ |
Abnormal sleep cyclea | ++ | ++ | +++ | + | +++ | + | ++ | +++ |
Excessive sleeping/daytime fatigue | +++ | ++ | +++ | +++ | +++ | −/+ | − | ++ |
Constipation | +++ | ++ | − | ++ | +++ | + | − | +++ |
Behavior and psyche (− = not present and/or not an issue; + = infrequent and/or not a big issue; ++ = frequent and/or sometimes a big issue;+++ = almost always present and/or a major concern) | ||||||||
Hyperactivity | ++ | − | − | + | − | − | − | ++ |
Underactivity | ++ | +++ | − | ++ | n.s | +++ | ++ | +++ |
Stubbornness | +++ | ++ | − | ++ | ++ | + | ++ | +++ |
Temper tantrums | + | + | − | ++ | − | − | − | ++ |
Aggression | + | − | − | − | − | − | − | ++ |
Lying, deceitfulness | +++ | − | n.a | ++ | − | − | + | + |
Stealing | +++ | − | n.a | ++ | − | − | + | ++ |
Manic, excited mood | +++ | ++ | − | − | − | − | − | ++ |
Depressive mood | + | ++ | − | + | − | − | − | +++ |
Anxiety | ++ | + | − | ++ | + | +++ | + | +++ |
Social withdrawal | +++ | + | n.a | + | − | + | + | +++ |
Restricted interests | +++ | n.s | n.a | ++ | ++ | ++ | + | ++ |
Self-stimulatory behavior | + | +++ | − | − | ++ | − | − | + |
Skin picking | +++ | − | − | + | − | − | + | +++ |
Autonomy and activities | ||||||||
Communication | Verbal | Verbal | None | Verbal | Mostly nonverbal, ≤ 50 Signs/gestures | Verbal | Verbal | Verbal |
Reading skills | Basic | Not present | Not present | Basic | Basic | Good | Good | Good |
Awareness of danger | Severely reduced | Reduced | Severely reduced | Reduced | Severely reduced | Severely reduced | Reduced | Normal |
Can take care for basic needsb | Yes, but help is required in certain areas | Sometimes, but help is required regularly | No | Yes, but help is required in certain areas | No | With help | Yes, but help is sometimes required | Yes |
Performs basic (housekeeping) choresc | No/mostly not | Sometimes | No | Regularly | No | No/mostly not | Sometimes | Sometimes |
Performs more complex (everyday) activitiesd | No/mostly not | No/mostly not | No | Sometimes | No | No/mostly not | Regularly | Sometimes |
Sports/physical activities | No/mostly not | Regularly | No | Sometimes | Sometimes | Occasionally | No | No |
Works (e.g. in a sheltered environment) | No/mostly not | Regularly | No | Regularly | No | Regularly | Regularly | No |
Medical conditions, medication | ||||||||
Hypothyroidism | No | Yes | No | Yes | No | No | No | Yes |
Hypogonadisme | n.s | Yes | Yes | No | No | No | No | Yes |
Type 2 diabetes | No | No | No | No | No | No | No | No |
Hypertension | No | No | No | No | No | No | No | Yes |
Scoliosis | Yes | Yes | Yes | No | Yes | No | Yes | No |
Autism spectrum disorder | Yes | No | n.a | Yes | Yes | Yes (Rocking body movements) | No | No |
Attention deficit disorder | Yes | No (?) | n.a | n.s | n.s | n.s | No | n.s |
Obsessive compulsive disorder | Yes | No (?) | n.a | Yes | n.s | n.s | No | No |
Growth hormone therapy | Yes | No | No | No | Yes | No | No | No |
Use of melatonin | No | No | No | Yes | No | No | No | No |