Table 1

Summary of disease genes associated with fetal akinesia

Gene symbolMIMMode of inheritanceDisease entity
Genes involved in motor neuron development and survival
 SMN1600354ARSMA, FADS
 ERBB3190151ARLCCS2
 GLE1603371ARLCCS1, LAAHD
 PIP5K1C606102ARLCCS3
 UBE1314370XLXL-SMA
Genes encoding components of the neuromuscular junction
 CHRNA1100690ARFADS
 CHRND100720ARAMC/CMS with fetal akinesia; FADS
 CHRNG100730ARLethal and EV MPS
 CNTN1600016ARCM with fetal akinesia
 DOK7610285ARFADS
 SYNE1608441ARAMC with fetal akinesia
 RAPSN601592ARAMC, FADS
Genes encoding adult skeletal muscle proteins
 ACTA1102610ADFADS
 BIN1601248ARCNM with fetal akinesia
 DMPK605377ADFADS/DM
 FKRP606596ARWWS with fetal akinesia
 LMNA150330ARLGMD1B with fetal akinesia
 MTM1300415XLMTM with fetal akinesia
 NEB161650ARFADS
 RYR1180901AR, ADFADS, CRM with fetal akinesia
 TPM2190990AR, ADEV MPS, DA1, DA2B
 TNNI2191043ADDA1, DA2B
 TNNT3600692ADDA1, DA2B
Genes encoding fetally-expressed myostructural proteins
 MYH3160270ADDA2A, DA2B
 MYH8160741ADCC-DA7, DA7
 MYBPC1160794ADDA1
 UTRN128240Arthrogryposis with fetal akinesia
Other genes
 FGFR2176943ADFADS
 GBE1607839ARGSD-IV/FADS

  • AD, autosomal dominant; AMC, arthrogryposis multiplex congenita; AR, autosomal recessive; CC, Carney complex; CM, congenital myopathy; CMS, congenital myasthenic syndrome; CNM, centronuclear myopathy; CRM, core-rod myopathy; DA, distal arthrogryposis; DM, myotonic dystrophy; DMPK, dystrophia myotonica protein kinase; EV, Escobar variant; FADS, fetal akinesia deformation sequence; GSD-IV, glycogen storage disease type IV; LAAHD, lethal arthrogryposis with anterior horn cell disease; LCCS, lethal congenital contracture syndrome; LGMD1B, limb-girdle muscular dystrophy type 1B; MPS, multiple pterygia syndrome; MIM, Mendelian Inheritance in Man; MTM, myotubular myopathy; SMA, spinal muscular atrophy; WWS, Walker–Warburg syndrome; XL, X linked.