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Table 2 Clinical findings in patients with beta-mannosidosis due to MANBA (c.2158-2A>G) homozygous variant

From: Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific 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