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Table 1 Summary of genetic variance in TTI2 gene

From: Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

cDNAAmino acid changes (Abbreviated)Number of casesClinical characteristicsReferences
c.1307 T > Ap.Ile436Asn (I436N)3Normal Growth parameters, microcephaly at adult age, severe cognitive impairment, severe speech delay, short stature, dysmorphic features, vertebral anomalies[6]
c.1100C > Tp.Pro367Leu (P367L)2Non-syndromic moderate intellectual disability[7]
c.950A > Tp.Asp317Val (D317V)1Primary microcephaly, short stature, severe speech delay, dysmorphic features, strabismus, dyskinesiaDescribed here
Patient 1 compound c.1075C > T and c.950A > T
Patient 2 compound
c.539 T > C and c.575 T > C
p.Arg359Cys and p.Asp317Val (R359C and D317V)
p.Leu180Pro and p.Leu192Pro (L180P and L192P)
2Intellectual disabilities, progressive microcephaly, high nasal bridge, deep-set eyes, partial ovarian failure[8]
aCompound c.942_944delTCTins and c.1100C > Tp.Leu315CysfsTer8 and p.Pro367Leu (L315CdelfsTer8 and P367L)2Intellectual disabilities, microcephaly, growth retardation, speech disorder, movement disorders[9]
  1. aComplete mutation name c.942_944delTCTinsCTGTGCTTCCATTCCTTCCTCCTAG