Page 83 - 南京医科大学自然版

第45卷第6期 傅绿函，施 玮，张胜男，等. 基于全外显子组测序的1 096例智力障碍或全面性发育迟缓患儿
2025年6月 遗传学病因构成分析［J］. 南京医科大学学报（自然科学版），2025，45（6）：816-825 ·821 ·

（续表2）
Number Inheritance
Gene Related diseases OMIM
of cases pattern
MEF2C 3 Neurodevelopmental disorder with hypotonia，stereotypic hand movements，and im⁃ 613443 AD
paired language；NEDHSIL
TRIO 3 Intellectual developmental disorder，autosomal dominant 44，with microcephaly；MRD44 617061 AD
Intellectual developmental disorder，autosomal dominant 63，with macrocephaly； 618825 AD
MRD63
UBE3A 3 Angelman syndrome；AS 105830 AD
WAC 3 Desanto⁃Shinawi syndrome；DESSH 616708 AD
WDR45 3 Neurodegeneration with brain iron accumulation 5；NBIA5 300894 XD
ID/GDD：intellectual disability/global developmental delay；OMIM：online mendelian inheritance in man；AD：autosomal dominant inheritance；
AR：autosomal recessive inheritance；XD：X⁃linked dominant inheritance；XR：X⁃linked recessive inheritance；SMu：somatic mutation.

表3 MECP2基因变异位点信息及患儿临床表型
Table 3 MECP2 gene variant loci and clinical phenotypes of children
Pathoge Source of
Gene Coding change Protein change Transcript Phenotype
⁃nicity variation
MECP2 c.1490_c.1493de p.Val497Alafs*26 NM_001110792 P de novo GDD，motor delay，abnormal temper tan⁃
lTTAG trums，motor regression，hypotonia
MECP2 c.1376_c.1377de p.Lys459Argfs*27 NM_004992 P de novo GDD
lAA
MECP2 c.916C>T p.Arg306Ter NM_001110792 LP de novo Impaired social interactions，short attention
span，delayed speech and language develop⁃
ment，GDD，ADHD
MECP2 c.844C>T p.Arg282Ter NM_001110792 P de novo GDD
MECP2 c.799C>T p.Arg267Ter NM_001110792 P de novo EP，GDD，motor delay，febrile seizure，hypo⁃
tonia
Hypertelorism，impaired social interactions，
MECP2 c.709C>A p.Pro237Thr NM_001110792 LP de novo
short attention span，delayed speech and
language development，GDD，abnormality of
speech or vocalization
MECP2 c.509C>T p.Thr170Met NM_001110792 P de novo Delayed speech and language development，
GDD，abnormality of speech or vocalization
Delayed speech and language development，
MECP2 C.355A>T P.Lys119Ter NM_001110792 P de novo
abnormal eye contact，GDD，motor delay，ab⁃
normal posturing，cerebellar dysplasia，de⁃
layed early ⁃ childhood social milestone de⁃
velopment，widened subarachnoid space，
talipes equinovalgus
Hearing abnormality，delayed speech and
MECP2 c.268_c.269insT p.Ser90Phefs*13 NM_001110792 P de novo
language development，GDD，motor delay，
hypotonia，delayed early ⁃ childhood social
milestone development，widened subarach⁃
noid space，genu recurvatum，neonatal hy⁃
perbilirubinemia，talipes equinovalgus
MECP2 c.57_c.58insGC p.Arg20Alafs*28 NM_001110792 LP de novo GDD，febrile seizure，wide cavum septum
GAGGAGGAG pellucidum，motor delay，cognitive impair⁃
ment，hypotonia，talipes equinovalgus
MECP2 c.7G>C p.Ala3Pro NM_001110792 LP de novo ASD，delayed speech and language develop⁃
ment，GDD，abnormality of speech or vocal⁃
ization
P：pathogenic；LP：likely pathogenic；ID/GDD：intellectual disability/global developmental delay；EP：epilepsy；ASD：autism spectrum disorder；
ADHD：attention ⁃ deficit/hyperactivity disorder.