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] |