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Table 1 The summary of clinical features of the male patients with familial MECP2 duplication

From: Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

 

Our cases

Literature review (male patients)

III:6

III:15

III:16

IV:1

IV:2

%

179

%

Age of enrolled

25 years

NA

11 years and 2 months

14 years and 6 months

2 years and 6 months

   

Age of death

–

16 years

–

14 years and 8 months

–

   

Intellectual disability

yes

yes

yes

yes

yes

100%

159/160

99.4%

Delayed milestones

yes

yes

yes

yes

yes

   

Age of head control

NA

7–8 months

7–8 months

3–4 months

3–4 months

   

Age of independent sitting

over 2 years

2 years

2 years

8 months

8 months

   

Age learned to walk

over 2 years

over 2 years

over 2 years

3 years

1 year and 6 months

   

Feed difficulty

yes

yes

yes

no

no

   

Seizure

yes

yes

yes

yes

no

80%

97/162

59.9%

Age for first seizure

7 years

3 years

2 years

10 years

no

   

Types of seizures

generalized tonic-clonic seizure, myoclonic seizure, nodding attack and drop attack

generalized tonic–clonic seizures

generalized tonic–clonic seizures

generalized tonic-clonic seizure, myoclonic seizure, nodding attack and drop attack

no

   

Hypotonia

yes

yes

yes

yes

yes

100%

141/151

93.4%

ASD or autistic feature

yes

yes

yes

yes

yes

100%

30/41

73.2%

Poor or no eye-to-eye Contact

yes

yes

yes

yes

yes

   

Delayed develop peer relationships

yes

yes

yes

yes

yes

   

Speech lack or delay

yes

yes

yes

yes

yes

   

Stereotyped hand Movement

yes

yes

yes

yes

yes

   

Lack of social or Emotional reciprocity

yes

yes

yes

yes

yes

   

Recurrent respiratory Infection

yes

yes

yes

yes

no

80%

114/157

72.6%

Constipation

yes

yes

yes

yes

yes

100%

39/103

37.9%

MECP2 duplication diagnosis

MLPA

clinical feature and family-based linkage analysis

array CGH

array CGH

MLPA

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