Background
Methods
Patients
Exome sequencing
Mutation analysis and Sanger sequencing
X-inactivation analysis
In silico analysis
Results
Clinical description of the patients and X-exome sequencing results
Family L107
Clinical findings | Clinical findings reported previously | D299 | L107 |
---|---|---|---|
Short stature
| + | + | - |
Scoliosis
| + | + | + |
Low weight
| + | + | + |
Microcephaly
| + | + |
-
|
Muscle hypoplasia
| + | + | NA |
Hypotonia
| + | + | NA |
Contractures
| + | + | NA |
Dystonic movements
| + | + | + |
Athetosis
| + | + | + |
Intellectual disability
| + | +/S | +/MO/S |
Absent speech
| + | + | + |
Dysarthria/Limited speech
| + | + | + |
Seizures
| + | + | NA |
Pectus excavatum
| + | + | NA |
Narrow long face
| + | - | + |
Round face
| + | + | - |
Valgus
| + | + | NA |
Hyperreflexia
| + | + | NA |
Simple ears
| + | + | - |
Cupped ears
| + | - | + |
Spastic quadriplegia
| + | + | - |
Family D299
Family D174
Gecz et al. [1999] [31] Female patient | Wu et al. [2007] [34] Male patients | Bonnet et al. [2009] [36] Male/male patient | Chiyonobu et al. [2007] [35] Male patient | D174 Male patient (III-7) | D174 Male patient (III-8) | D174 Male patient (II-5) | |||||
---|---|---|---|---|---|---|---|---|---|---|---|
n = 1 | n = 3 | n = 2 | n = 4 | n = 2 | n = 2 | n = 2 | n = 1 | ||||
Type of change
| Translocation t(X;12) (q24;q15) | Deletion | Missense variant p.G833R | Missense variant p.R631S | Missense variant p.M706T | Missense variant p.R450Q | Partial duplication of GRIA3 | Partial duplication of GRIA3 | Missense variant p.G630R | Missense variant p.G630R | Missense variant p.G630R |
Feature
| |||||||||||
Intellectual disability
| + | + | + | + | + | - | +/+ | + | + | + | + |
Mild
| - | - | - | - | + | - | - | - | - | - | - |
Moderate
| + | + | + | + | + | - | - | - | - | - | - |
Severe
| - | - | - | - | - | - | +/+ | + | + | + | + |
Autistic features
| ND | ND | + | ND | ND | ND | +/ND | + | + | - | + |
Behaviour troubles
| + | ND | + | ND | ND | ND | +/+ | + | + | + | + |
Self injury
| ND | ND | ND | ND | ND | ND | ND | ND | + | + | + |
Aggressive outbursts
| ND | ND | ND | ND | ND | ND | ND | ND | + | + | - |
Dysmorphic features
| ND | ND | ND | ND | ND | ND | +/+ | + | + | + | + |
Brachycephaly
| ND | ND | ND | ND | ND | ND | ND | ND | + | + | + |
Macrocephaly
| ND | ND | + | ND | ND | ND | ND | ND | - | - | - |
Deep set eyes
| ND | ND | ND | ND | ND | ND | ND | ND | + | + | + |
Aesthenic habitus
| ND | ND | ND | + | + | ND | ND | ND | - | - | - |
Myclonic jerks
| ND | ND | + | ND | ND | ND | ND | ND | ND | ND | ND |
Hyporeflexia
| ND | + | ND | ND | + | ND | ND | ND | ND | ND | ND |
Prominent supraorbital ridges
| ND | ND | ND | ND | ND | ND | ND | ND | + | + | + |
Short stature
| ND | ND | ND | ND | ND | ND | -/- | + | + | + | + |
Epilepsy
| + | ND | ND | ND | ND | ND | -/- | - | + | + | + |
Inguinal hernia
| - | ND | ND | ND | ND | ND | +/- | + | - | - | - |
Brain MRI abnormalities
| ND | ND | ND | ND | ND | ND | -/+ | - | ND | ND | ND |
Bowel occlusions
| ND | ND | ND | ND | ND | ND | ND | ND | - | - | + |
Malposition of feet
| ND | ND | ND | ND | ND | ND | ND | ND | + | + | - |
Hydronephrosis
| ND | ND | ND | ND | ND | ND | ND | ND | + | ND | ND |
Ren arcuatus
| ND | ND | ND | ND | ND | ND | ND | ND | + | ND | ND |
Family D172
Family | D172 | Family D301 | ||||||
---|---|---|---|---|---|---|---|---|
III-5 | III-8 | IV-3 | III-5 | III-9 | IV-3 | V-1 | V-2 | |
Male | Male | Male | Male | Male | Male | Male | Male | |
Clinical features
| ||||||||
Intellectual disability
| +/MO | +/M | +/MO | +/S | +/S | +/MO | +/MO | +/MO |
Delayed motor development
| + | ND | + | + | ND | + | + | + |
Delayed speech development
| + | ND | + | + | + | + | + | + |
Eneuresis
| + | - | + | + | - | - | + | - |
Strabismus
| - | - | - | + | - | + | + | - |
ADHD
| - | - | - | ND | ND | + | + | + |
Seizures
| - | - | - | + | - | - | - | - |
Behavioural problems
| - | - | + | + | - | + | - | - |
Family D301
Family D222
Clinical trait | Patient III-1 | Patient III-2 | Patient III-3 |
---|---|---|---|
Age
| 15.5 y | 8.8 y | 7.3y |
Weight at birth
| 2530 g | 2460 g | 3590 g |
Head circumference
| 55.5 cm, −1 SD | 49.6 cm, −3 SD | 49.5 cm, −2.7 SD |
Hypospadia
| + | + | - |
Horseshoe kidney
| - | + | - |
Enuresis nocturna
| + | + | rarely |
Large cupped formed ear lobes
| + | + | + |
ADHD
| + | + | ND |
Arcus aortae dexter
| - | + | - |
Bicuspid aortic valve
| + | + | - |
Sleep disorder
| + | + | + |
Intellectual disability
| +/M | +/M | +/M |