TABLE 1.
Clinical features of the present case compared with the previously reported patients with XYLT2 variants
| Present study | Kausar et al. (2019) | Guleray et al. (2019) | Umair et al. (2017)*1,6,10 | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family | 1 | 2 | 3 | 4 | 5 | |||||||||||||||||
| Patient | Pat. 1 | Pat. 2 | Pat. 1 | Pat. 2 | Pat. 3 | Pat. 1 | Pat. 2 | Pat. 1 | Pat. 2 | Pat. 3 | Pat. 4 | Pat. 5 | Pat. 6 | |||||||||
| Gender | F | M | M | M | M | F | M | M | M | F | M | M | M | |||||||||
| Age (years) | 9 | Newborn | 12 | 9 | 10 | 10 | 7 | 21 | 19 | 16 | 11 | 9 | 5 | |||||||||
| Ethnicity | Moroccan | Pakistani | Turkish | Iraqi | Turkish | |||||||||||||||||
| Parental consanguinity | + | + | + | + | + | + | + | + | − | |||||||||||||
| Variant | c.1586dup p.(Thr530Hisfs*16) | c.2518_2519del p.(Arg840Thrfs*115) | c.2548G > A p.(Asp850Asn) | c.1159C > T p.(Arg387Trp) | c.2548G > C p.(Asp850His) | |||||||||||||||||
| Prenatal history | Uncomplicated pregnancy at full term | Fetal malformations Maternal diabetes Increased nuchal translucency Hyperechoic intestine |
Uncomplicated pregnancy at full term | NA | NA | Pregnancy at full term No intrauterine fractures |
Pregnancy at full term No intrauterine fractures |
NA | NA | NA | NA | NA | Uncomplicated pregnancy with normal measurements at birth | |||||||||
| Short stature | + | − | + | + | + | + | + | − | − | + | − | − | + | |||||||||
| Low weight | + | − | + | + | + | + | + | − | − | − | + | − | + | |||||||||
| Multiple fractures | + | − | + | + | + | + | NA | + | + | + | + | + | NA | |||||||||
| Kyphosis | + | − | + | NA | + | + | + | + | + | + | + | + | + | |||||||||
| Osteoporosis | + | − | + | NA | + | + | + | + | + | + | + | + | + | |||||||||
| Cataract | + | − | + | + | + | + | + | + | + | + | + | + | + | |||||||||
| Retinal detachment | − | − | + | − | − | + | − | NA | NA | + | + | + | − | |||||||||
| Dental problems | + | − | − | − | − | − | + | − | − | − | − | − | − | |||||||||
| Hearing loss | + | + | + | + | + | − | + | − | − | − | − | − | − | |||||||||
| Cardiovascular problems | + | + | − | − | − | + | − | − | − | − | + | − | + | |||||||||
| Facial dysmorphism | Long and oval face Flattened facial profile |
Flattened profile with drooping cheeks Elongated eyelid rims Broad and flattened nasal root Turned down corners of the mouth Chin with horizontal crease Macrosomia |
Low posterior hairline Short and webbed neck Low set ears Shield chest Long fingers and toes |
NA | NA | High forehead Short neck Facial hypotonia |
Epicanthal folds Facial hypotonia |
Hypertelorism Facial hypotonia |
Facial hypotonia | Hypertelorism Facial hypotonia Low nasal bridge Prognatism |
Hypertelorism Facial hypotonia Low nasal bridge Prognatism |
Hypertelorism Facial hypotonia Low nasal bridge Prognatism |
Facial hypotonia Long philtrum with thin upper lip Low set ears with thick helices Anti-helix abnormality Preauricular pits |
|||||||||
| Ophthalmologic findings | Sclerae blue | NA | Nystagmus Amblyopia |
− | − | Nystagmus Myopia Strabism Grayish sclerae |
Grayish sclerae | Micropthalmia Leucoma cornea Phtisis bulbi |
Hyperemic optic nerve Thin retinal vessels and partially occluded Retinal atrophy Pigment irregularities |
Band keratopathy Congenital melanosis Pigment irregularities Thin retinal vessels |
Pigment epithelium Atrophy of retina |
Micropthalmia Retinal atrophy Pigment irregularities |
Nystagmus and myopia Hyperpigmented and hypopigmented retinal areas Thin retinal vessels |
|||||||||
| Neurodevelopmental delay | Intellectual disability | NA | Learning difficulties | Learning difficulties | Learning difficulties | − | Intellectual disability | − | − | − | − | − | Intellectual disability/learning difficulties | |||||||||
| Joint and skin elasticity | − | − | − | − | − | − | − | − | − | − | − | − | + | |||||||||
| Walking difficulty | − | − | + | − | NA | + | + | NA | NA | NA | NA | NA | + | |||||||||
| Other clinical findings | Short neck with pterygium Reduction in trunk length Severe kyphoscoliosis Barrel chest |
Diffuse hypertrichosis on the back Overabundant skin in the retronucal area Cryptorchidism Hepatomegaly |
NA | NA | Low posterior hairline Short and webbed neck Low set ears Shield chest Long fingers and toes |
Short trunk Lordosis Mild pes planus Varicose vein Hepatomegaly Truncal obesity |
Pes planus Enlarged liver and spleen Truncal obesity |
Pes planus Broadened fingertips |
Pes planus Broadened fingertips |
Pes planus Broadened fingertips |
Pes planus Broadened fingertips |
Pes planus Broadened fingertips |
Pes planus Short trunk |
|||||||||
| Other radiographic findings | Platyspondyly Thoracic deformity with secondary kyphosis |
NA | Platyspondyly Increased intervertebral disk space |
NA | Platyspondyly | Platyspondyly Intervetebral disc space Increased intervertebral disc space |
Platyspondyly | Platyspondyly Scoliosis |
Platyspondyly Scoliosis |
Platyspondyly Scoliosis |
Platyspondyly Scoliosis |
Platyspondyly Scoliosis |
Platyspondyly Increase in intervertebral disc space |
|||||||||
| Taylan et al. (2017) | Taylan et al. (2016) | Munns et al. (2015) | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family | 6 | 7 | 8 | 9 | 10 | 11 | 12 | |||||||||||||||
| Patient | Pat. 1 | Pat. 2 | Pat. 1 | Pat. 2 | Pat. 3 | Pat. 4 | Pat. 1 | Pat. 2 | Pat. 3 | |||||||||||||
| Gender | F | F | F | F | M | M | M | M | M | |||||||||||||
| Age (years) | 7 | 7 | 8 | 16 | 7 | 11 | 14 | 11 | 19 | |||||||||||||
| Ethnicity | Turkish | Turkish | Turkish | Pakistani | Iraqi | European Australian | NA | |||||||||||||||
| Parental consanguinity | − | + | + | + | + | + | − | − | + | |||||||||||||
| Variant | c.710T > G p.(Met237Arg) | c.2561_2562del p.(Glu854Alafs*101) | c.2188C > T p.(Arg730*) | c.1687C > G p.(Arg563Gly) | c.1814T > C p.(Leu605Pro) | c.692dup p.(Val232Glyfs*54) | c.520del p.(Ala174Profs*35) | |||||||||||||||
| Prenatal history | Pregnancy at full term No intrauterine fractures Normal birth measurements |
NA | NA | NA | NA | NA | Born at 39 weeks | NA | Born prematurely 35 weeks | |||||||||||||
| Short stature | + | + | + | − | − | + | − | − | + | |||||||||||||
| Low weight | + | NA | NA | − | − | − | − | − | + | |||||||||||||
| Multiple fractures | + | + | + | + | + | + | + | + | + | |||||||||||||
| Kyphosis | + | − | + | + | + | NA | NA | NA | NA | |||||||||||||
| Osteoporosis | + | + | + | + | + | NA | NA | NA | NA | |||||||||||||
| Cataract | + | + | + | + | + | + | + | + | + | |||||||||||||
| Retinal detachment | − | − | − | − | − | − | + | − | + | |||||||||||||
| Dental problems | − | − | − | + | − | − | − | − | − | |||||||||||||
| Hearing loss | + | + | + | + | − | + | + | + | + | |||||||||||||
| Cardiovascular problems | − | − | + | − | − | − | + | + | − | |||||||||||||
| Facial dysmorphism | Minimal biparietal bossing Upslanted short palpebral fissure |
Proptosis Prominent cheeks Synostosis of metopic suture |
NA | NA | NA | NA | Low posterior hairline Short webbed neck Posteriorly rotated and low set ears |
NA | NA | |||||||||||||
| Ophthalmologic findings | − | Iris hypoplastic Pupils irregular Peripapillary atrophy Hypopigmented fundus |
Nystagmus Bilateral glaucoma |
Ectropion uvea | − | Nystagmus | Amblyopia Nystagmus |
− | − | |||||||||||||
| Neurodevelopmental delay | − | Intellectual disability | Intellectual disability | NA | NA | NA | Learning difficulties | Learning difficulties | − | |||||||||||||
| Joint and skin elasticity | − | − | − | − | + | − | − | − | − | |||||||||||||
| Walking difficulty | NA | − | NA | NA | NA | NA | + | − | + | |||||||||||||
| Other clinical findings | Pectus excavatum | Pectus excavatum | Aggressive behavior | Translucent appearing teeth | Spontaneous fracture of teeth | Pectus carinatum | Lymphedema of lower extremities Perforated duodenal ulcer Pes planus pectus carinatum, shield chest Long finger Overriding second and third toes Dilated ureters |
Pes planus | Pes planus Mild left hemiplegia |
|||||||||||||
| Other radiographic findings | Short spine | − | Short trunk Osteopenia Platyspondyly Increased disc space |
Anterior wedge deformity Biconcave appearance of the vertebral and plates |
− | Short spine | − | Thin cortices of hand and wrist | Thin cortices of hand and wrist | |||||||||||||
NA, not available; M, male; F, female; +, present; −, absent. *Patients described by Schmidt et al. (2001) and Alanay et al. (2006).