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Table 1 Clinical comparison of all patients with known BIN1 mutations

From: Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

 

Patient

Sex

Mutation1

AA change

Origin

Age of onset

Age2

Central nuclei

Pregnancy

Ventilation

Muscle weakness

Facial weakness

Ptosis

Ophtalmoplegia/

paresis

Other phenotypes

Cognitive development

Cardiac function

Reference

Family 1

AAT68

male

c.105G > T

p.LysK35Asn

India

birth

12

++

reduced fetal movements, oligohydramnios, IUGR3

normal

proximal, slowly progressive

no

yes

yes

contractures at birth

normal

normal

[12]

 

ACC82

female

c.105G > T

p.LysK35Asn

India

birth

died at 1year

+

reduced fetal movements, oligohydramnios, IUGR

normal

proximal

no

no

no

contractures at birth

hypodevelopment of frontal lobes

died from myocarditis

[12]

 

ADS5

female

no DNA available

n.d.

India

birth

died at 18 hrs

n.d.

reduced fetal movements, oligohydramnios, IUGR, premature birth

lung hypoplasia, ventilated from birth, died from respiratory failure

no spontaneous movements

n.d.

n.d.

n.d.

severe joint contractures at birth

n.d.

prenatal heart enlarged, postnatal ECG normal

[12]

Family 2

ADR71

male

c.451G > A

p.Asp151Asn

Iraq

8

35

++

normal

n.d.

proximal

n.d

no

no

no

normal

normal

[12]

Single case

AEY47

male

c.461G > A

pArg154Gln

Morocco

11

21

++

normal

respiratory insufficiency

diffuse atrophy, slowly progressive

yes

yes

yes

Scapular winging, hyperlordosis, left-sided kyphoscoliosis

IQ 70

normal

[15]

This family

AFG89 (patient 1)

female

c.1717C > T

p.Gln573stop

Turkey

birth

13

++

normal

normal

proximal

yes

yes

yes

no

IQ 60

normal

this study

 

AFG92 (patient 2)

male

c.1717C > T

p.Gln573stop

Turkey

birth

14

++

normal

respiratory insufficiency

proximal

yes

yes

yes

no

IQ 60

cardiac arrhythmia

this study

Family 3

LF41

male

c.1723A > T

p.Lys575stop

Iraq

birth

14

++

normal

respiratory insufficiency

proximal, slowly progressive

yes

yes

yes

scoliosis

normal

normal

[12, 18]

  1. 1Nucleotide numbering from the A of the ATG start codon in BIN1-iso1 reference sequence (NM_139343).
  2. 2At time of publication (yrs)
  3. 3Intrauterine growth restriction
  4. 4Mejaddam et al., 2009 reported the detailed histopathological characterization of patient LF41 described in Nicot et al., 2007.