TABLE 1

IGHMP2 mutations of the Patients with Infantile SMARD1 in Our Cohort

Patient No.Age, yGenderMutations on cDNA LevelMutations on Amino Acid LevelParental ConsanguinityPre term BirthSmall for Gestational Age
1a14Fc.2611+1G>T/c.2611+1G>T−/−YNY
2a11Fc.1738G>A/c.1738G>Ap.V580I/p.V580IYNN
3a9Fc.707T>G/c.721T>Cp.L236X/p.C241RNYY
4a9Fc.1693G>A/c.1730T>Cp.D565N/p.L577PNNN
5b9Mc.1707C>T/c.1826C>Ap.R570X/p.A609ENNY
6a8Mc.1082T>C/c.1730T>Cp.L361P/p.L577PNNN
77Fc.661delA/c.1415T>C-/p.L472PNYY
8a6Mc.1478T>C/c.2363C>Tp.T493I/p.R788XNNN
9c6Fc.638A>G/c.638A>Gp.H213R/p.H213RNNN
105Mc.904C>T/c.1156T>Cp.Q302X/p.W386RNYY
11d2Mc.121delC/c.1060G>A-/p.G354SNNN
Percentagee18% (2/11)27% (3/11)45% (5/11)
  • F, female; M, male; N, no; Y, yes.

  • a Patients whose phenotypes and/or mutations have been previously published: patient 1: family 6 in ref 1, patient 25 in ref 2; patient 2: family 3 in ref 1, patient 7 in ref 2, patient 4 in ref 21; patient 3: patient 20 in ref 2; patient 4: patient 26 in ref 2; patient 6: patient 11 in ref 2; patient 8: patient 2 in ref 20.

  • b Mutational analysis in patient 5 by DNA Laboratory, Guy’s Hospital, London, UK.

  • c Mutational analysis in patient 9 by Prof. Zerres, Aachen, Germany.

  • d Mutational analysis in patient 11 by Prof. Comi, Milano, Italy.

  • e Percentage of “yes” of all “yes” and “no.”