Table 2.
Clinical findings in patients with beta-mannosidosis due to MANBA (c.2158-2A>G) homozygous variant
| Family - patient | Reported by | Hearing loss | Mental retardation | Infectious manifestations | Facial dysmorphism | Skeletal defects | Other symptoms | Variant |
|---|---|---|---|---|---|---|---|---|
| CZ1 – II/8 | this report | prelingual hearing impairment | moderate mental retardation – behavioral disorder - aggressiveness | frequent otitis and bronchitis in preschool age | no | no | no | NO DNA testing – biochemical and enzymatic detection of beta-mannosidosis |
| CZ1 – II/10 | this report | severe prelingual hearing impairment | moderate mental retardation – behavioral disorder | no | hypertelorism, broad nose root | no | strabismus, short stature 149 cm at the age of 12 y | MANBA (c.2158-2A>G) hom |
| CZ2 – II/4 | this report | moderate prelingual hearing impairment | moderate mental retardation | no data | no data | no data | no data | MANBA (c.2158-2A>G) hom |
| CZ3 – II/2 | this report | moderate hearing impairment | mental retardation | frequent bronchitis in preschool age | no data | no data | no data | MANBA (c.2158-2A>G) hom |
| SK4 – II/1 | this report | severe to profound prelingual hearing loss – PTA 90 dB for R, 70 dB for L | moderate mental retardation with autistic features | recurrent bronchopneumonia, gastroenteritis, otitis media, conjunctivitis | no data | growth retardation | urinary incontinence, strabismus, anemia, hyperphagia with normal body weight | MANBA (c.2158-2A>G) hom |
| SK5 – II/1 | this report | moderately severe prelingual progressive hearing loss | moderate mental retardation with increased impulsivity and psychotic manifestations | no | broad nose | no data | short stature (153 cm at the age of 26y), hirsutism | MANBA (c.2158-2A>G) hom |
| SK6 – III/1 | this report | moderate prelingual hearing loss – PTA 45 dB | no data | no data | no data | no data | no data | MANBA (c.2158-2A>G) hom |
| SK7 – III/1 | this report | congenital hearing loss | mental retardation with autistic features | no data | no data | no data | convergent strabismus | MANBA (c.2158-2A>G) hom |
| SK8–1 | this report | hearing impairment | no data | no data | no data | no data | no data | MANBA (c.2158-2A>G) hom |
| SK8–2 | this report | hearing impairment | no data | no data | no data | no data | no data | MANBA (c.2158-2A>G) hom |
| SK8–3 | this report | hearing impairment | no data | no data | no data | no data | no data | MANBA (c.2158-2A>G) hom |
| Fam 1 - II/8 | [5] | not mentioned | severe mental retardation – auto mutilations – tearing of hairs leading to focal alopecia | recurrent skin and respiratory infections | gargoyl facies – hypertelorism, macroglossia, gingival hyperplasia, short neck | deformities of the thorax, lumbar hyperlordosis and nanism | severe anemia | MANBA (c.2158-2A>G) hom |
| Fam 1 - II/2 | [5] | hearing impairment | moderate mental retardation, occasional aggressive behavior. | recurring erysipelas-like skin changes and respiratory infections | slight hypertelorism and thick lips | no | no | MANBA (c.2158-2A>G) hom |
| Fam 6005 – II:1 | [23] | moderate to profound hearing impairment | intellectual disability, behavioral problems – attention-deficit/hyperactivity disorder | respiratory inflammations treated as cystic fibrosis | not mentioned | not mentioned | no | MANBA (c.2158-2A>G) hom |