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Table 1 Genotypes and phenotypes of various members in the family

From: Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

Individual

GFI1

Blood

MYO6

Hearing

III-1

N382S (het)

Neutropenia, monocytosis

I1176L (het)

Impaired

III-3

WT

Normal

WT

Normal

IV-1

N382S (het)

Neutropenia, monocytosis

I1176L (het)

Impaired

IV-2

N382S (het)

Neutropenia, monocytosis

I1176L (het)

Impaired

IV-3

N382S (het)

Neutropenia

I1176L (het)

Impaired

V-1

N382S (het)

Neutropenia, monocytosis

WT

Normal

V-2

WT

Normal

I1176L (het)

Very slight hearing loss

V-5

N382S (het)

Has had low white cell counta

WT

Slight hearing loss

I-1

Unknown

Unknown

Unknown

Impaired

I-2

Unknown

Unknown

Unknown

Impaired in later years

II-1

Unknown

Neutropenia, monocytosis

Unknown

Impaired

III-2

Unknown

Neutropenia, monocytosis

Unknown

Impaired

IV-4

Unknown

Neutropenia

Unknown

Impaired

IV-5

Unknown

Normal

Unknown

Normal

IV-6

Unknown

Unknown

Unknown

Impaired

IV-7

Unknown

Normal

Unknown

Normal

V-3

Unknown

Normal

Unknown

Normal

V-4

Unknown

Normal

Unknown

Normal

V-6

Unknown

Has had low white cell counta

Unknown

Normal

V-7

Unknown

Unknown

Unknown

Slight hearing loss

V-8

Unknown

Unknown

Unknown

Normal

  1. Abbreviations: WT Wildtype, het Heterozygous
  2. areported in patient questionnaires/interview – no accompanying blood reports available