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. 2021 May 13;12(5):731. doi: 10.3390/genes12050731

Table 1.

Clinical and molecular presentations of MCPH and Seckel syndrome families carrying mutations in the main genes that induce the phenotypes and the modifier genes that result in the enhancement of the phenotypes.

(a)
Family 1 Family 2 Family 3
Patient ID VI-1 VI-2 VI-3 V-4 V-1 V-9 IV-1 V-1 V-2 IV-1 IV-2 IV-3
Gene 1
Gene name ASPM ASPM ASPM ASPM ASPM ASPM ASPM ASPM ASPM ASPM ASPM ASPM
Zygosity Homo Homo Homo Homo Homo Homo Homo Homo Homo Homo Homo Homo
cDNA mutation c.9601C>T c.9601C>T c.9601C>T c.9601C>T c.9601C>T c.9601C>T c.719_720delCT c.719_720delCT c.719_720delCT c.9492T>G c.9492T>G c.9492T>G
Protein mutation p.(Gln3201*) p.(Gln3201*) p.(Gln3201*) p.(Gln3201*) p.(Gln3201*) p.(Gln3201*) p.(Ser240Cysfs*16) p.(Ser240Cysfs*16) p.(Ser240Cysfs*16) p.(Tyr3164*) p.(Tyr3164*) p.(Tyr3164*)
Gene 2
Gene name - - - - WDR62 WDR62 - CEP63 CEP63 RAD50 RAD50 -
Zygosity - - - - Hetero Hetero - Hetero Hetero Hetero Hetero -
cDNA mutation - - - - c.3116A>G c.3116A>G - c.1241A>T c.1241A>T c.3643C>G c.3643C>G -
Protein mutation - - - - p.(Ser1106Gly) p.(Ser1106Gly) - p.(Thr421Ser) p.(Thr421Ser) p.(Leu1215Val) p.(Leu1215Val) -
Measurement
Age (years) 12 9 6 23 32 10 34 6 3 18 14 10
Gender Male Female Female Male Female Male Female Male Female Female Female Female
HC (cm) 41 35 34 42 41.5 37 35 37.5 32 41 43 38
HC (SD) −10 −14.55 −15 −10 −10 −12 −14.55 −11 −15 −10.5 −9 −13
Height (cm) 133 115 105 162 124 99 145 93 76 137 145 112
Height (SD) −2 −3 −2.5 −2 −7 −6 −3 −5 −5 −5 −3 −4
Neurological features
ID Moderate Mild Severe Moderate Severe Mild Moderate Moderate Moderate Severe Severe Mild
Behavior Aggressive Aggressive Aggressive Aggressive Aggressive Aggressive Aggressive Aggressive Aggressive Aggressive Aggressive Normal
Speech impairment Severe Severe Severe Severe Severe Severe Severe Moderate Severe Mild Mild Mild
Musculoskeletal abnormalities
Contractures - - - - Joints (elbow and hands) Joints (elbow and hands) - - - - - -
Clinodactyly of toes - - - - - - - - - - - -
Clinodactyly of fingers - - - - - - - - - - - -
Brachydactyly of fingers - - - - - - - - - - - -
Brachydactyly of toes - - - - - - - - - - - -
Others
Drooling - - - - Yes Yes - - - - - -
Locomotion Normal Normal Normal Normal Normal Normal Normal Hyperactive Hyperactive Normal Normal Normal
Seizures - - - - - - - Yes Yes Yes Yes -
Hypopigmentation - - - - - - - - - - - -
Teeth Normal Normal Normal Normal Normal Normal Normal Normal Normal Normal Normal Normal
(b)
Family 4 Family 5
Patient ID V-6 V-7 V-8 VI-2 VI-3 VI-4 IV-1 IV-2
Gene 1
Gene name CENPJ CENPJ CENPJ CENPJ CENPJ CENPJ CENPJ CENPJ
Zygosity Homo Homo Homo Homo Homo Homo Homo Homo
cDNA mutation c.3586G>A c.3586G>A c.3586G>A c.3586G>A c.3586G>A c.3586G>A c.3586G>A c.3586G>A
Protein mutation p.(Asp1196Asn) and p.(Val1181_Val1206del) p.(Asp1196Asn) and p.(Val1181_Val1206del) p.(Asp1196Asn) and p.(Val1181_Val1206del) p.(Asp1196Asn) and p.(Val1181_Val1206del) p.(Asp1196Asn) and p.(Val1181_Val1206del) p.(Asp1196Asn) and p.(Val1181_Val1206del) p.(Asp1196Asn) and p.(Val1181_Val1206del) p.(Asp1196Asn) and p.(Val1181_Val1206del)
Gene 2
Gene name - - - PCNT PCNT PCNT - -
Zygosity - - - Hetero Hetero Hetero - -
cDNA mutation - - - c.5767C>T c.5767C>T c.5767C>T - -
Protein mutation - - - p.(Arg1923*) p.(Arg1923*) p.(Arg1923*) - -
Measurement
Age (years) 32 22 20 8 6 4 10 4
Gender Female Male Female Male Male Female Male Male
HC (cm) 44 47 45 39 35 35 35 35
HC (SD) −8.5 −7 −7.5 −10 −13 −11.5 −12 −11
Height (cm) 139 156 145 107 91 86 114 81
Height (SD) −4.5 −4 −4 −4 −5 −4 −4 −5
Neurological features
ID Moderate Moderate Moderate Mild Mild Mild Moderate Moderate
Behavior - - - - - - Normal Aggressive
Speech impairment Severe Moderate Mild Moderate Severe Moderate Moderate Moderate
Musculoskeletal abnormalities
Contractures - - - - - - - -
Clinodactyly of toes - - - Yes (bilateral) Yes (bilateral) Yes (bilateral) - -
Clinodactyly of fingers - - - - - - - -
Brachydactyly of fingers - - - Yes (bilateral) Yes (bilateral) Yes (bilateral) - -
Brachydactyly of toes - - - Yes (bilateral) Yes (bilateral) Yes (bilateral) - -
Others
Drooling - - - Yes Yes Yes Very rare -
Locomotion Normal Normal Normal Normal Normal Normal Normal Normal
Seizures - - - - - - Very rare Normal
Hypopigmentation Yes (forehead) Yes (forehead) - - - - - -
Teeth Normal Normal Normal Normal Normal Normal Malocclusion Normal

Note: “-” means absence of the feature; NR, No Record; HC, Head Circumference; ID, Intellectual Disability; cm, Centimeter; SD, Standard Deviation. Second mutation of CENPJ shown in family 4 and 5 is based on RT-PCR data, which revealed a second transcript lacking 78 bp (c.3541_3618del) of CENPJ and resulting in an in-frame deletion of 26 amino acids, p.(Val1181_Val1206del).