Table 1 Clinical features of nine individuals with a splice site mutation in the SNX10 gene, and intermediate autosomal recessive osteopetrosis (IARO).
From: SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
Patient number | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 |
|---|---|---|---|---|---|---|---|---|---|
Gender | Male | Female | Male | Female | Female | Male | Male | Male | Female |
age (year) | 47 | 43 | 46 | 35 | 24 | 19 | 15 | 12 | 10 |
Birth length, weight, AOFC | 51 cm | 50 cm | 52 cm | BNA | 48 cm | 52 cm | NA (±0SD) | NA | 48 cm |
4000 g | 3620 g | 3910 g | 3110 g | 2930 g | 3500 g | 3094 g | NA | 3305 g | |
34 cm | NA | NA | NA | NA | 34.5 cm | NA | NA | 35 cm | |
Final height (age year) C(SD) | 132 cm | 149 cm | 160 cm | 159 cm | NA | NA | Normal growth, after DHSCT | — | — |
(17)(−6.7) | (20)(−2.5) | (20)(−2.9) | (19)(−1.1) | ||||||
Age at onset | Early infancy | Early infancy | Early infancy | Early infancy | Early infancy | Early infancy | Early infancy | Early infancy | Early infancy |
Age at diagnosis, Esymptoms | 7 weeks. Optic atrophy. Macrocephaly. Anaemia (FHb 6.64 mmol/l) | 5 months. Optic atrophy. Macrocephaly 46 cm. Anaemia (Hb 6.09 mmol/l) | 2 years. Optic atrophy. Macrocephaly | 6 months. Optic atrophy. Macrocephaly 44.5 cm | 19 months. Optic atrophy. Macrocephaly 50 cm | 12 months. Optic atrophy, blindness | 28 months. Optic atrophy. Macrocephaly 55.5 cm. Anaemia (Hb 6.33 mmol/l) | Days, disease known in the family | 36 months. Retained teeth. Nasal congestion. Optic atrophy. Macrocephaly. Anaemia (Hb 6.6 mmol/l) |
Stem cell transplantation | — | — | — | — | — | — | HSCT at the age of 33 month | — | — |
Deceased (age) | — | — | — | 35 years | — | 19 years | — | 12 years | 10 years |
Neurological symptoms | Blindness. Impaired hearing, unilateral profound deafness. Facial paralysis | Impaired vision, (blind on one eye). Impaired hearing. Facial paralysis | Impaired vision, (blind on one eye). Impaired hearing, tuba aperta. Facial paralysis | Blindness. Impaired hearing. Facial paralysis | Impaired vision and hearing. Foramen magnum stenosis, op decompression at the age of 14 | Blindness. Profound deafness. Intellectual disability | Impaired vision | Blindness. Impaired hearing. Died due to foramen magnum stenosis at the age of 12 | Blindness. Hydrocephalus, GVP-shunt. Decompression op of the brainstem at the age of 8, died due to compression of a postsurgical cephalocele |
Haematological symptoms | Anaemia, hepato-splenomegaly, splenectomy at the age of 5. Blood transfusions. | Anaemia, hepato-splenomegaly. Blood transfusions. | Anaemia, hepato-splenomegaly. Blood transfusions. | Anaemia, hepato-splenomegaly. Blood transfusions Died due to septicaemia originating from osteomyelitis. | Almost normal haematopoiesis. | Anaemia, hepato-splenomegaly. | Normal haematopoiesis. | Anaemia, hepato-splenomegaly, splenectomy at the age of 9. Blood transfusions. | Anaemia, hepato-splenomegaly, splenectomy at the age of 5. Blood transfusions. |
Eruption of primary teeth (month), and teeth development | NA Malformed and retained | At the age of 4-6 months, ten primary teeth Malformed and retained | At the age of 6 months, five primary teeth Malformed and retained | NA Malformed and retained | At the age of 6 months, 12 primary teeth Malformed and retained | NA Malformed and retained | At the age of 28 months, two primary teeth Malformed and retained but a lot better than patients not transplanted | At the age of 13 months, six primary teeth Malformed and retained | At the age of 31 months, eight primary teeth Malformed and retained |
HONJ (year) | At the age of 6. Osteonecrosis of the ear canal, and the skull with associated epidural abscess | At the age of 13. Osteonecrosis of the ear canal | At the age of 30. Osteonecrosis of the ear canal | ONJ (age NA) | At the age of 18. | At the age of 12. Died due to septicaemia originating from ONJ | None | None | None |
Airway symptoms | Narrow nasal, and pharynx cavities Tracheostomy at the age of 22. ICPAP during night | Early nasal obstruction, before the age of 5 months. CPAP during night | Narrow nasal, and pharynx cavities CPAP during night since the age of 35. | Narrow nasal, and pharynx cavities | Narrow nasal, and pharynx cavities | Narrow nasal, and pharynx cavities | None | Narrow nasal, and pharynx cavities Apnoea during the night Tracheostomy at the age of 9. | Nasal obstruction, before the age of 12 month, adenoidectomy Tracheostomy at the age of 8. |
Bone fractures | Multiple fractures, pseudoarthrosis | Multiple fractures, pseudoarthrosis | Multiple fractures, pseudoarthrosis | Multiple fractures, pseudoarthrosis | Multiple fractures | Multiple fractures | None | Multiple fractures | Few fractures |
Other features | Exophthalmos keratitis, endophthalmitis, enucleation of one eye. Ear canal stenosis, Kidney tumour, Urinary stones, Weight loss, Wheelchair bound | Exophthalmos Drooling, treated with Botox, Wheelchair bound | Exophthalmos, Bilat pes calcaneovalgus, Hypertension, Walking frame | Exophthalmos Media otitis, Wheelchair bound | Exophthalmos, Mitral valve insufficiency, Wheelchair bound | Exophthalmos Inguinal hernia, Wheelchair bound | Exophthalmos | Exophthalmos, Drooling, Anosmia | Exophthalmos, Severe back pain |
