Case Report
Copyright ©The Author(s) 2021.
World J Clin Cases. Aug 16, 2021; 9(23): 6858-6866
Published online Aug 16, 2021. doi: 10.12998/wjcc.v9.i23.6858
Table 1 Summarize the medical records reported in the past
Time of Publication
Age of the patient
Mutations in the positioning
Nucleic acid change
Amino acid change
Form of mutation
Language barrier
Motor retardation
Time to sit alone
Time to walk alone
Change in perception
Time to speak word
Face change
Stereotyped behavior
200923 moChr3:71164161-71958845++15 mo18 mo+23 mo+NA
20103 yr and 10 moChr3:70549923-71618670Missing++NA16 moNA41 mo+NA
20107 yrChr3:70807767-71305965Missing++NA24 mo+42 moNANA
5 yr and 6 moChr3:71021785c.1573C>Tp.R525Variation++12 mo36 mo+42 mo+NA
6 yrChr3:tel:70341246-70341247 and cen:71388173-71388174Missing++8 mo24 mo+42 mo +NA
201015 yr and 11 moChr3:71114875-71504640/exons4-14Missing++NA18-20 mo+3 yrNA+
9 yr and 11 mo3p14.1c.1573C>Tp.R525XVariation++NA18-20 mo+6 yrNA+
2011NAChr3:71132860 +Tp.Ala339SerfsX4Insert++NANA+NANA+
2012NAChr3:62133183-71072125Missing++NANA+NANANA
20137 yrChr3:71041636-71229421Missing++1 yr25 mo+52 mo+NA
201514 yrChr3:71027059-71027060c.1267-1268Missing+++13 mo+20 mo++
20142 yrChr3:71021758c.1600T>Cp.W534RVariationNANANANANANA+NA
201611 yrChr3:71026829 c.1393A>Gp.R465GVariation++NA21 mo+NA++
7 yrChr3:71021818 c.1540C>Tp.R514CVariation++NA17 mo+NA++
15 yrChr3:71027010 c.1317C>Gp.Y439Variation++NA21 mo+NA++
This case5 yr3p14.1,exons6-21Missing++9 mo2 yr+NA++