Table 1 Genetic and clinical features of our patients with SPTBN4 variants. Symptoms are encoded according to Human Phenotype Ontology (HPO) [14].

From: Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

 

Characteristics and symptoms

HPO

Pat 1, Fam A (this report)

Pat 2, Fam A (this report)

Pat 3, Fam B (this report)

Pat 4, Fam C (this report)

Pat 5, Fam D (this report)

Mutation in SPTBN4 (NM_020971)

  

c.3375_3393del p.(Asp1126Thrfs*39)

c.3375_3393del p.(Asp1126Thrfs*39)

c.737G>C p.(Arg246Pro)

c.1247del p.(Leu417Tyrfs*5)

c.1149dup p.(Asn384Glnfs*17) / g.(?_41,001,394)_(41,011,375_?)del

ACMG variant classification

  

PVS1

PVS1

PM2

PVS1

PVS1

Ethnicity

  

Saudi Arabia

Saudi Arabia

Afghanistan

Iran (Kurdish)

Chile (Latin American)

Gender

  

Female

Female

Female

Female

Female

Consanguinity

  

Y

Y

Y

Y

N

Zygosity

  

Hom

Hom

Hom

Hom

Comp Het

Head

       
 

Myopathic facies

HP:0002058

Y

Y

Y

Y

Y

 

Poor head control

HP:0002421

Y

Y

Y

Y

Y

 

High palate

HP:0000218

Y

Y

Y

Y

N

 

Sensorineural hearing impairment

HP:0000407

N (clinically)

N (clinically)

Y

N (clinically)

Y

 

Absent brainstem auditory responses

HP:0004463

ND

ND

Y

ND

N

 

Scoliosis

HP:0002650

N

N

N

Y

Y

Respiratory and chest

       
 

Recurrent infections due to aspiration

HP:0004891

Y

Y

Y

Y

Y

Gastronintestinal

       
 

Feeding difficulties

HP:0011968

Y

Y

Y

Y

Y

 

Poor suck

HP:0002033

Y

Y

Y

Y

Y

 

Dysphagia

HP:0002015

Y

Y

Y

Y

Y

 

Gastroesophageal reflux

HP:0002020

U

U

Y

Y

Y

 

Gastrostomy tube feeding in infancy

HP:0011471

Y

Y

Y

N

Y

Skeletal

       
 

Ankle contracture

HP:0006466

N

N

N

Y

Y

Neurologic

       
 

Neonatal hypotonia

HP:0001319

Y

Y

Y

Y

Y

 

Generalized hypotonia

HP:0001290

Y

Y

Y

Y

Y

 

Generalized muscle atrophy

HP:0009055

Y

Y

N

Y

Y

 

Distal limb muscle atrophy

HP:0003693

Y

Y

N

Y

Y

 

Choreoathetoid movements

HP:0001266

N

N

Y

N

N

 

Abnormality of the cerebral white matter

HP:0002500

Y

ND

N

ND

N

 

Demyelinating peripheral neuropathy

HP:0003448

N

N

N

N

N

 

Peripheral axonal neuropathy

HP:0003477

N

N

N

N

Y

 

Type 1 muscle fiber atrophy

HP:0011807

ND

ND

Y

ND

Y

 

Type 2 muscle fiber atrophy

HP:0003554

ND

ND

N

ND

Y

 

Areflexia

HP:0001284

Y

Y

N

Y

Y

 

Delayed gross motor development

HP:0002194

Y

Y

Y

Y

Y

 

Horizontal nystagmus

HP:0000666

N

N

Y

Y

N

 

EEG abnormality

HP:0002353

ND

ND

Y

ND

Y

 

Absent speech

HP:0001344

Y

Y

Y

Y

Y

Prenatal manifestation

       
 

Premature birth (<37 weeks of gestation)

HP:0001622

N

N

N

N

N

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