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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

cDNA

Amino acid changes (Abbreviated)

Number of cases

Clinical characteristics

References

c.1307 T > A

p.Ile436Asn (I436N)

3

Normal Growth parameters, microcephaly at adult age, severe cognitive impairment, severe speech delay, short stature, dysmorphic features, vertebral anomalies

[6]

c.1100C > T

p.Pro367Leu (P367L)

2

Non-syndromic moderate intellectual disability

[7]

c.950A > T

p.Asp317Val (D317V)

1

Primary microcephaly, short stature, severe speech delay, dysmorphic features, strabismus, dyskinesia

Described here

Patient 1 compound c.1075C > T and c.950A > T

and

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)

2

Intellectual disabilities, progressive microcephaly, high nasal bridge, deep-set eyes, partial ovarian failure

[8]

aCompound c.942_944delTCTins and c.1100C > T

p.Leu315CysfsTer8 and p.Pro367Leu (L315CdelfsTer8 and P367L)

2

Intellectual disabilities, microcephaly, growth retardation, speech disorder, movement disorders

[9]

  1. aComplete mutation name c.942_944delTCTinsCTGTGCTTCCATTCCTTCCTCCTAG